##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##FILTER=<ID=FAIL,Description="Fail the site if all alleles fail but for different reasons.">
##FILTER=<ID=base_qual,Description="alt median base quality">
##FILTER=<ID=clustered_events,Description="Clustered events observed in the tumor">
##FILTER=<ID=contamination,Description="contamination">
##FILTER=<ID=duplicate,Description="evidence for alt allele is overrepresented by apparent duplicates">
##FILTER=<ID=fragment,Description="abs(ref - alt) median fragment length">
##FILTER=<ID=germline,Description="Evidence indicates this site is germline, not somatic">
##FILTER=<ID=haplotype,Description="Variant near filtered variant on same haplotype.">
##FILTER=<ID=low_allele_frac,Description="Allele fraction is below specified threshold">
##FILTER=<ID=map_qual,Description="ref - alt median mapping quality">
##FILTER=<ID=multiallelic,Description="Site filtered because too many alt alleles pass tumor LOD">
##FILTER=<ID=n_ratio,Description="Ratio of N to alt exceeds specified ratio">
##FILTER=<ID=normal_artifact,Description="artifact_in_normal">
##FILTER=<ID=orientation,Description="orientation bias detected by the orientation bias mixture model">
##FILTER=<ID=panel_of_normals,Description="Blacklisted site in panel of normals">
##FILTER=<ID=position,Description="median distance of alt variants from end of reads">
##FILTER=<ID=possible_numt,Description="Allele depth is below expected coverage of NuMT in autosome">
##FILTER=<ID=slippage,Description="Site filtered due to contraction of short tandem repeat region">
##FILTER=<ID=strand_bias,Description="Evidence for alt allele comes from one read direction only">
##FILTER=<ID=strict_strand,Description="Evidence for alt allele is not represented in both directions">
##FILTER=<ID=weak_evidence,Description="Mutation does not meet likelihood threshold">
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=AF,Number=A,Type=Float,Description="Allele fractions of alternate alleles in the tumor">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
##FORMAT=<ID=F1R2,Number=R,Type=Integer,Description="Count of reads in F1R2 pair orientation supporting each allele">
##FORMAT=<ID=F2R1,Number=R,Type=Integer,Description="Count of reads in F2R1 pair orientation supporting each allele">
##FORMAT=<ID=FAD,Number=R,Type=Integer,Description="Count of fragments supporting each allele.">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another; will always be heterozygous and is not intended to describe called alleles">
##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=PS,Number=1,Type=Integer,Description="Phasing set (typically the position of the first variant in the set)">
##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias.">
##GATKCommandLine=<ID=FilterMutectCalls,CommandLine="FilterMutectCalls --output s96_filtered.vcf --variant s96_mutect_PON.vcf --reference /home/cml/humandb/index/human_ref38_patch13.fna --threshold-strategy OPTIMAL_F_SCORE --f-score-beta 1.0 --false-discovery-rate 0.05 --initial-threshold 0.1 --mitochondria-mode false --microbial-mode false --max-events-in-region 2 --max-alt-allele-count 1 --unique-alt-read-count 0 --min-median-mapping-quality -1 --min-median-base-quality 20 --max-median-fragment-length-difference 10000 --min-median-read-position 1 --max-n-ratio Infinity --min-reads-per-strand 0 --min-allele-fraction 0.0 --contamination-estimate 0.0 --log-snv-prior -13.815510557964275 --log-indel-prior -16.11809565095832 --log-artifact-prior -2.302585092994046 --normal-p-value-threshold 0.001 --min-slippage-length 8 --pcr-slippage-rate 0.1 --distance-on-haplotype 100 --long-indel-length 5 --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --max-variants-per-shard 0 --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version="4.2.6.1",Date="November 18, 2022 at 10:04:59 AM NPT">
##GATKCommandLine=<ID=Mutect2,CommandLine="Mutect2 --tumor-sample 39_S7_R1_recal_reads.bam_T --normal-sample 14_S14_R1_dedup_recal_reads.bam_N --panel-of-normals /mnt/3par2/CRC/chemo_analysis/s65_s96_s81_N_pon.vcf.gz --genotype-pon-sites true --germline-resource /home/cml/humandb/somatic-hg38_af-only-gnomad.hg38_NCid.vcf --native-pair-hmm-threads 64 --output s96_mutect_PON.vcf --input 39_CRC_96_T.bam --input 14_CRC_96_N.bam --reference /home/cml/humandb/index/human_ref38_patch13.fna --disable-read-filter MateOnSameContigOrNoMappedMateReadFilter --f1r2-median-mq 50 --f1r2-min-bq 20 --f1r2-max-depth 200 --genotype-germline-sites false --af-of-alleles-not-in-resource -1.0 --mitochondria-mode false --mutect3-training-mode false --mutect3-ref-downsample 10 --mutect3-alt-downsample 20 --mutect3-non-artifact-ratio 20 --tumor-lod-to-emit 3.0 --initial-tumor-lod 2.0 --pcr-snv-qual 40 --pcr-indel-qual 40 --max-population-af 0.01 --downsampling-stride 1 --callable-depth 10 --max-suspicious-reads-per-alignment-start 0 --normal-lod 2.2 --ignore-itr-artifacts false --gvcf-lod-band -2.5 --gvcf-lod-band -2.0 --gvcf-lod-band -1.5 --gvcf-lod-band -1.0 --gvcf-lod-band -0.5 --gvcf-lod-band 0.0 --gvcf-lod-band 0.5 --gvcf-lod-band 1.0 --minimum-allele-fraction 0.0 --independent-mates false --disable-adaptive-pruning false --kmer-size 10 --kmer-size 25 --dont-increase-kmer-sizes-for-cycles false --allow-non-unique-kmers-in-ref false --num-pruning-samples 1 --min-dangling-branch-length 4 --recover-all-dangling-branches false --max-num-haplotypes-in-population 128 --min-pruning 2 --adaptive-pruning-initial-error-rate 0.001 --pruning-lod-threshold 2.302585092994046 --pruning-seeding-lod-threshold 9.210340371976184 --max-unpruned-variants 100 --linked-de-bruijn-graph false --disable-artificial-haplotype-recovery false --enable-legacy-graph-cycle-detection false --debug-assembly false --debug-graph-transformations false --capture-assembly-failure-bam false --num-matching-bases-in-dangling-end-to-recover -1 --error-correction-log-odds -Infinity --error-correct-reads false --kmer-length-for-read-error-correction 25 --min-observations-for-kmer-to-be-solid 20 --base-quality-score-threshold 18 --dragstr-het-hom-ratio 2 --dont-use-dragstr-pair-hmm-scores false --pair-hmm-gap-continuation-penalty 10 --expected-mismatch-rate-for-read-disqualification 0.02 --pair-hmm-implementation FASTEST_AVAILABLE --pcr-indel-model CONSERVATIVE --phred-scaled-global-read-mismapping-rate 45 --disable-symmetric-hmm-normalizing false --disable-cap-base-qualities-to-map-quality false --enable-dynamic-read-disqualification-for-genotyping false --dynamic-read-disqualification-threshold 1.0 --native-pair-hmm-use-double-precision false --bam-writer-type CALLED_HAPLOTYPES --dont-use-soft-clipped-bases false --min-base-quality-score 10 --smith-waterman JAVA --emit-ref-confidence NONE --max-mnp-distance 1 --force-call-filtered-alleles false --soft-clip-low-quality-ends false --allele-informative-reads-overlap-margin 2 --smith-waterman-dangling-end-match-value 25 --smith-waterman-dangling-end-mismatch-penalty -50 --smith-waterman-dangling-end-gap-open-penalty -110 --smith-waterman-dangling-end-gap-extend-penalty -6 --smith-waterman-haplotype-to-reference-match-value 200 --smith-waterman-haplotype-to-reference-mismatch-penalty -150 --smith-waterman-haplotype-to-reference-gap-open-penalty -260 --smith-waterman-haplotype-to-reference-gap-extend-penalty -11 --smith-waterman-read-to-haplotype-match-value 10 --smith-waterman-read-to-haplotype-mismatch-penalty -15 --smith-waterman-read-to-haplotype-gap-open-penalty -30 --smith-waterman-read-to-haplotype-gap-extend-penalty -5 --min-assembly-region-size 50 --max-assembly-region-size 300 --active-probability-threshold 0.002 --max-prob-propagation-distance 50 --force-active false --assembly-region-padding 100 --padding-around-indels 75 --padding-around-snps 20 --padding-around-strs 75 --max-extension-into-assembly-region-padding-legacy 25 --max-reads-per-alignment-start 50 --enable-legacy-assembly-region-trimming false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --max-variants-per-shard 0 --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false --max-read-length 2147483647 --min-read-length 30 --minimum-mapping-quality 20 --disable-tool-default-annotations false --enable-all-annotations false",Version="4.2.6.1",Date="November 17, 2022 at 12:12:26 PM NPT">
##INFO=<ID=AS_FilterStatus,Number=A,Type=String,Description="Filter status for each allele, as assessed by ApplyVQSR. Note that the VCF filter field will reflect the most lenient/sensitive status across all alleles.">
##INFO=<ID=AS_SB_TABLE,Number=1,Type=String,Description="Allele-specific forward/reverse read counts for strand bias tests. Includes the reference and alleles separated by |.">
##INFO=<ID=AS_UNIQ_ALT_READ_COUNT,Number=A,Type=Integer,Description="Number of reads with unique start and mate end positions for each alt at a variant site">
##INFO=<ID=CONTQ,Number=1,Type=Float,Description="Phred-scaled qualities that alt allele are not due to contamination">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
##INFO=<ID=ECNT,Number=1,Type=Integer,Description="Number of events in this haplotype">
##INFO=<ID=GERMQ,Number=1,Type=Integer,Description="Phred-scaled quality that alt alleles are not germline variants">
##INFO=<ID=MBQ,Number=R,Type=Integer,Description="median base quality by allele">
##INFO=<ID=MFRL,Number=R,Type=Integer,Description="median fragment length by allele">
##INFO=<ID=MMQ,Number=R,Type=Integer,Description="median mapping quality by allele">
##INFO=<ID=MPOS,Number=A,Type=Integer,Description="median distance from end of read">
##INFO=<ID=NALOD,Number=A,Type=Float,Description="Negative log 10 odds of artifact in normal with same allele fraction as tumor">
##INFO=<ID=NCount,Number=1,Type=Integer,Description="Count of N bases in the pileup">
##INFO=<ID=NLOD,Number=A,Type=Float,Description="Normal log 10 likelihood ratio of diploid het or hom alt genotypes">
##INFO=<ID=OCM,Number=1,Type=Integer,Description="Number of alt reads whose original alignment doesn't match the current contig.">
##INFO=<ID=PON,Number=0,Type=Flag,Description="site found in panel of normals">
##INFO=<ID=POPAF,Number=A,Type=Float,Description="negative log 10 population allele frequencies of alt alleles">
##INFO=<ID=ROQ,Number=1,Type=Float,Description="Phred-scaled qualities that alt allele are not due to read orientation artifact">
##INFO=<ID=RPA,Number=R,Type=Integer,Description="Number of times tandem repeat unit is repeated, for each allele (including reference)">
##INFO=<ID=RU,Number=1,Type=String,Description="Tandem repeat unit (bases)">
##INFO=<ID=SEQQ,Number=1,Type=Integer,Description="Phred-scaled quality that alt alleles are not sequencing errors">
##INFO=<ID=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat">
##INFO=<ID=STRANDQ,Number=1,Type=Integer,Description="Phred-scaled quality of strand bias artifact">
##INFO=<ID=STRQ,Number=1,Type=Integer,Description="Phred-scaled quality that alt alleles in STRs are not polymerase slippage errors">
##INFO=<ID=TLOD,Number=A,Type=Float,Description="Log 10 likelihood ratio score of variant existing versus not existing">
##MutectVersion=2.2
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##contig=<ID=NT_187631.1,length=101331>
##contig=<ID=NW_003315972.2,length=96924>
##contig=<ID=NW_003315971.2,length=162811>
##contig=<ID=NT_187634.1,length=284869>
##contig=<ID=NT_187635.1,length=144206>
##contig=<ID=NT_187646.1,length=162212>
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##contig=<ID=NT_187647.1,length=161218>
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##contig=<ID=NT_187650.1,length=378547>
##contig=<ID=NT_187651.1,length=1144418>
##contig=<ID=NT_187652.1,length=130957>
##contig=<ID=NT_113891.3,length=4795265>
##contig=<ID=NT_187653.1,length=190869>
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##contig=<ID=NT_187654.1,length=318687>
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##contig=<ID=NT_187657.1,length=214625>
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##contig=<ID=NT_187659.1,length=196384>
##contig=<ID=NT_187660.1,length=5161414>
##contig=<ID=NT_187662.1,length=137721>
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##contig=<ID=NT_187661.1,length=325800>
##contig=<ID=NW_003871093.1,length=88070>
##contig=<ID=NT_187663.1,length=1423190>
##contig=<ID=NT_187665.1,length=174061>
##contig=<ID=NT_187666.1,length=157710>
##contig=<ID=NW_003571055.2,length=729520>
##contig=<ID=NW_004504305.1,length=74013>
##contig=<ID=NT_187667.1,length=274009>
##contig=<ID=NT_187678.1,length=166540>
##contig=<ID=NT_187679.1,length=555799>
##contig=<ID=NT_167245.2,length=4604811>
##contig=<ID=NT_187680.1,length=229282>
##contig=<ID=NT_187681.1,length=218612>
##contig=<ID=NW_003571056.2,length=1064304>
##contig=<ID=NT_187682.1,length=176103>
##contig=<ID=NT_187688.1,length=163458>
##contig=<ID=NT_167246.2,length=4677643>
##contig=<ID=NW_003571057.2,length=1091841>
##contig=<ID=NT_187689.1,length=197351>
##contig=<ID=NT_167247.2,length=4827813>
##contig=<ID=NW_003571058.2,length=1066390>
##contig=<ID=NT_187690.1,length=164170>
##contig=<ID=NT_167248.2,length=4606388>
##contig=<ID=NW_003571059.2,length=1002683>
##contig=<ID=NT_187691.1,length=165607>
##contig=<ID=NT_167249.2,length=4929269>
##contig=<ID=NW_003571060.1,length=987100>
##contig=<ID=NT_187692.1,length=76752>
##contig=<ID=NW_003571061.2,length=796479>
##contig=<ID=NT_187693.1,length=1066800>
##contig=<ID=NT_187636.1,length=248807>
##contig=<ID=NT_187637.1,length=170399>
##contig=<ID=NT_187638.1,length=157053>
##contig=<ID=NT_187639.1,length=171027>
##contig=<ID=NT_187640.1,length=204239>
##contig=<ID=NT_187641.1,length=209512>
##contig=<ID=NT_187642.1,length=155532>
##contig=<ID=NT_187643.1,length=170698>
##contig=<ID=NT_187644.1,length=184499>
##contig=<ID=NT_187645.1,length=170680>
##contig=<ID=NT_187668.1,length=205194>
##contig=<ID=NT_187669.1,length=170665>
##contig=<ID=NT_187670.1,length=184516>
##contig=<ID=NT_187671.1,length=190932>
##contig=<ID=NT_187672.1,length=123111>
##contig=<ID=NT_187673.1,length=170701>
##contig=<ID=NT_187674.1,length=198005>
##contig=<ID=NT_187675.1,length=282224>
##contig=<ID=NT_187676.1,length=187935>
##contig=<ID=NT_187677.1,length=189352>
##contig=<ID=NT_187683.1,length=186203>
##contig=<ID=NT_187684.1,length=200773>
##contig=<ID=NT_187685.1,length=170148>
##contig=<ID=NT_187686.1,length=215732>
##contig=<ID=NT_187687.1,length=170537>
##contig=<ID=NT_113949.2,length=177381>
##contig=<ID=MT,length=16569>
##filtering_status=These calls have been filtered by FilterMutectCalls to label false positives with a list of failed filters and true positives with PASS.
##normal_sample=14_S14_R1_dedup_recal_reads.bam_N
##source=FilterMutectCalls
##source=Mutect2
##tumor_sample=39_S7_R1_recal_reads.bam_T
##bcftools_viewVersion=1.10.2+htslib-1.15.1-62-g3e28921
##bcftools_viewCommand=view -i FILTER="PASS" s96_filtered.vcf; Date=Mon Nov 21 17:38:26 2022
##SnpSiftVersion="SnpSift 5.0e (build 2021-03-09 06:01), by Pablo Cingolani"
##SnpSiftCmd="SnpSift Annotate /home/cml/Downloads/snpEff/data/GRCh38.p13/Cosmic95_NCid.vcf s96_PASS.vcf"
##INFO=<ID=GENOMIC_ID,Number=1,Type=String,Description="Genomic Mutation ID">
##INFO=<ID=CDS,Number=1,Type=String,Description="CDS annotation">
##INFO=<ID=AA,Number=1,Type=String,Description="Peptide annotation">
##INFO=<ID=GENE,Number=1,Type=String,Description="Gene name">
##INFO=<ID=CNT,Number=1,Type=Integer,Description="How many samples have this mutation">
##INFO=<ID=STRAND,Number=1,Type=String,Description="Gene strand">
##INFO=<ID=HGVSP,Number=1,Type=String,Description="HGVS peptide syntax">
##INFO=<ID=HGVSG,Number=1,Type=String,Description="HGVS genomic syntax">
##INFO=<ID=HGVSC,Number=1,Type=String,Description="HGVS cds syntax">
##INFO=<ID=LEGACY_ID,Number=1,Type=String,Description="Legacy Mutation ID">
##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=cytoBand,Number=.,Type=String,Description="cytoBand 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=SIFT4G_score,Number=.,Type=String,Description="SIFT4G_score annotation provided by ANNOVAR">
##INFO=<ID=SIFT4G_converted_rankscore,Number=.,Type=String,Description="SIFT4G_converted_rankscore annotation provided by ANNOVAR">
##INFO=<ID=SIFT4G_pred,Number=.,Type=String,Description="SIFT4G_pred annotation provided by ANNOVAR">
##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR">
##INFO=<ID=Polyphen2_HDIV_rankscore,Number=.,Type=String,Description="Polyphen2_HDIV_rankscore annotation provided by ANNOVAR">
##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR">
##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR">
##INFO=<ID=Polyphen2_HVAR_rankscore,Number=.,Type=String,Description="Polyphen2_HVAR_rankscore annotation provided by ANNOVAR">
##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_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_rankscore,Number=.,Type=String,Description="MutationAssessor_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=VEST4_score,Number=.,Type=String,Description="VEST4_score annotation provided by ANNOVAR">
##INFO=<ID=VEST4_rankscore,Number=.,Type=String,Description="VEST4_rankscore 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=MetaRNN_score,Number=.,Type=String,Description="MetaRNN_score annotation provided by ANNOVAR">
##INFO=<ID=MetaRNN_rankscore,Number=.,Type=String,Description="MetaRNN_rankscore annotation provided by ANNOVAR">
##INFO=<ID=MetaRNN_pred,Number=.,Type=String,Description="MetaRNN_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=REVEL_score,Number=.,Type=String,Description="REVEL_score annotation provided by ANNOVAR">
##INFO=<ID=REVEL_rankscore,Number=.,Type=String,Description="REVEL_rankscore 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=MVP_score,Number=.,Type=String,Description="MVP_score annotation provided by ANNOVAR">
##INFO=<ID=MVP_rankscore,Number=.,Type=String,Description="MVP_rankscore annotation provided by ANNOVAR">
##INFO=<ID=MPC_score,Number=.,Type=String,Description="MPC_score annotation provided by ANNOVAR">
##INFO=<ID=MPC_rankscore,Number=.,Type=String,Description="MPC_rankscore annotation provided by ANNOVAR">
##INFO=<ID=PrimateAI_score,Number=.,Type=String,Description="PrimateAI_score annotation provided by ANNOVAR">
##INFO=<ID=PrimateAI_rankscore,Number=.,Type=String,Description="PrimateAI_rankscore annotation provided by ANNOVAR">
##INFO=<ID=PrimateAI_pred,Number=.,Type=String,Description="PrimateAI_pred annotation provided by ANNOVAR">
##INFO=<ID=DEOGEN2_score,Number=.,Type=String,Description="DEOGEN2_score annotation provided by ANNOVAR">
##INFO=<ID=DEOGEN2_rankscore,Number=.,Type=String,Description="DEOGEN2_rankscore annotation provided by ANNOVAR">
##INFO=<ID=DEOGEN2_pred,Number=.,Type=String,Description="DEOGEN2_pred annotation provided by ANNOVAR">
##INFO=<ID=BayesDel_addAF_score,Number=.,Type=String,Description="BayesDel_addAF_score annotation provided by ANNOVAR">
##INFO=<ID=BayesDel_addAF_rankscore,Number=.,Type=String,Description="BayesDel_addAF_rankscore annotation provided by ANNOVAR">
##INFO=<ID=BayesDel_addAF_pred,Number=.,Type=String,Description="BayesDel_addAF_pred annotation provided by ANNOVAR">
##INFO=<ID=BayesDel_noAF_score,Number=.,Type=String,Description="BayesDel_noAF_score annotation provided by ANNOVAR">
##INFO=<ID=BayesDel_noAF_rankscore,Number=.,Type=String,Description="BayesDel_noAF_rankscore annotation provided by ANNOVAR">
##INFO=<ID=BayesDel_noAF_pred,Number=.,Type=String,Description="BayesDel_noAF_pred annotation provided by ANNOVAR">
##INFO=<ID=ClinPred_score,Number=.,Type=String,Description="ClinPred_score annotation provided by ANNOVAR">
##INFO=<ID=ClinPred_rankscore,Number=.,Type=String,Description="ClinPred_rankscore annotation provided by ANNOVAR">
##INFO=<ID=ClinPred_pred,Number=.,Type=String,Description="ClinPred_pred annotation provided by ANNOVAR">
##INFO=<ID=LIST-S2_score,Number=.,Type=String,Description="LIST-S2_score annotation provided by ANNOVAR">
##INFO=<ID=LIST-S2_rankscore,Number=.,Type=String,Description="LIST-S2_rankscore annotation provided by ANNOVAR">
##INFO=<ID=LIST-S2_pred,Number=.,Type=String,Description="LIST-S2_pred annotation provided by ANNOVAR">
##INFO=<ID=Aloft_pred,Number=.,Type=String,Description="Aloft_pred annotation provided by ANNOVAR">
##INFO=<ID=Aloft_Confidence,Number=.,Type=String,Description="Aloft_Confidence annotation provided by ANNOVAR">
##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR">
##INFO=<ID=CADD_raw_rankscore,Number=.,Type=String,Description="CADD_raw_rankscore annotation provided by ANNOVAR">
##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR">
##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR">
##INFO=<ID=DANN_rankscore,Number=.,Type=String,Description="DANN_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=fathmm-XF_coding_score,Number=.,Type=String,Description="fathmm-XF_coding_score annotation provided by ANNOVAR">
##INFO=<ID=fathmm-XF_coding_rankscore,Number=.,Type=String,Description="fathmm-XF_coding_rankscore annotation provided by ANNOVAR">
##INFO=<ID=fathmm-XF_coding_pred,Number=.,Type=String,Description="fathmm-XF_coding_pred annotation provided by ANNOVAR">
##INFO=<ID=Eigen-raw_coding,Number=.,Type=String,Description="Eigen-raw_coding annotation provided by ANNOVAR">
##INFO=<ID=Eigen-raw_coding_rankscore,Number=.,Type=String,Description="Eigen-raw_coding_rankscore annotation provided by ANNOVAR">
##INFO=<ID=Eigen-PC-raw_coding,Number=.,Type=String,Description="Eigen-PC-raw_coding annotation provided by ANNOVAR">
##INFO=<ID=Eigen-PC-raw_coding_rankscore,Number=.,Type=String,Description="Eigen-PC-raw_coding_rankscore annotation provided by ANNOVAR">
##INFO=<ID=GenoCanyon_score,Number=.,Type=String,Description="GenoCanyon_score annotation provided by ANNOVAR">
##INFO=<ID=GenoCanyon_rankscore,Number=.,Type=String,Description="GenoCanyon_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_rankscore,Number=.,Type=String,Description="integrated_fitCons_rankscore annotation provided by ANNOVAR">
##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR">
##INFO=<ID=LINSIGHT,Number=.,Type=String,Description="LINSIGHT annotation provided by ANNOVAR">
##INFO=<ID=LINSIGHT_rankscore,Number=.,Type=String,Description="LINSIGHT_rankscore annotation provided by ANNOVAR">
##INFO=<ID=GERP++_NR,Number=.,Type=String,Description="GERP++_NR 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=phyloP30way_mammalian,Number=.,Type=String,Description="phyloP30way_mammalian annotation provided by ANNOVAR">
##INFO=<ID=phyloP30way_mammalian_rankscore,Number=.,Type=String,Description="phyloP30way_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=phastCons30way_mammalian,Number=.,Type=String,Description="phastCons30way_mammalian annotation provided by ANNOVAR">
##INFO=<ID=phastCons30way_mammalian_rankscore,Number=.,Type=String,Description="phastCons30way_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_V8_gene,Number=.,Type=String,Description="GTEx_V8_gene annotation provided by ANNOVAR">
##INFO=<ID=GTEx_V8_tissue,Number=.,Type=String,Description="GTEx_V8_tissue annotation provided by ANNOVAR">
##INFO=<ID=AF,Number=.,Type=String,Description="AF annotation provided by ANNOVAR">
##INFO=<ID=AF_raw,Number=.,Type=String,Description="AF_raw annotation provided by ANNOVAR">
##INFO=<ID=AF_male,Number=.,Type=String,Description="AF_male annotation provided by ANNOVAR">
##INFO=<ID=AF_female,Number=.,Type=String,Description="AF_female annotation provided by ANNOVAR">
##INFO=<ID=AF_afr,Number=.,Type=String,Description="AF_afr annotation provided by ANNOVAR">
##INFO=<ID=AF_ami,Number=.,Type=String,Description="AF_ami annotation provided by ANNOVAR">
##INFO=<ID=AF_amr,Number=.,Type=String,Description="AF_amr annotation provided by ANNOVAR">
##INFO=<ID=AF_asj,Number=.,Type=String,Description="AF_asj annotation provided by ANNOVAR">
##INFO=<ID=AF_eas,Number=.,Type=String,Description="AF_eas annotation provided by ANNOVAR">
##INFO=<ID=AF_fin,Number=.,Type=String,Description="AF_fin annotation provided by ANNOVAR">
##INFO=<ID=AF_nfe,Number=.,Type=String,Description="AF_nfe annotation provided by ANNOVAR">
##INFO=<ID=AF_oth,Number=.,Type=String,Description="AF_oth annotation provided by ANNOVAR">
##INFO=<ID=AF_sas,Number=.,Type=String,Description="AF_sas annotation provided by ANNOVAR">
##INFO=<ID=ALL.sites.2015_08,Number=.,Type=String,Description="ALL.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=AFR.sites.2015_08,Number=.,Type=String,Description="AFR.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=ALL.sites.2015_08,Number=.,Type=String,Description="ALL.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=EUR.sites.2015_08,Number=.,Type=String,Description="EUR.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=AMR.sites.2015_08,Number=.,Type=String,Description="AMR.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=EUR.sites.2015_08,Number=.,Type=String,Description="EUR.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=EAS.sites.2015_08,Number=.,Type=String,Description="EAS.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=SAS.sites.2015_08,Number=.,Type=String,Description="SAS.sites.2015_08 annotation provided by ANNOVAR">
##INFO=<ID=avsnp150,Number=.,Type=String,Description="avsnp150 annotation provided by ANNOVAR">
##INFO=<ID=ExAC_ALL,Number=1,Type=Float,Description="ExAC_ALL annotation provided by ANNOVAR">
##INFO=<ID=ExAC_AFR,Number=1,Type=Float,Description="ExAC_AFR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_AMR,Number=1,Type=Float,Description="ExAC_AMR annotation provided by ANNOVAR">
##INFO=<ID=ExAC_EAS,Number=1,Type=Float,Description="ExAC_EAS annotation provided by ANNOVAR">
##INFO=<ID=ExAC_FIN,Number=1,Type=Float,Description="ExAC_FIN annotation provided by ANNOVAR">
##INFO=<ID=ExAC_NFE,Number=1,Type=Float,Description="ExAC_NFE annotation provided by ANNOVAR">
##INFO=<ID=ExAC_OTH,Number=1,Type=Float,Description="ExAC_OTH annotation provided by ANNOVAR">
##INFO=<ID=ExAC_SAS,Number=1,Type=Float,Description="ExAC_SAS 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	14_S14_R1_dedup_recal_reads.bam_N	39_S7_R1_recal_reads.bam_T
chr1	943343	.	T	TG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,57|22,24;DP=159;ECNT=1;GERMQ=89;MBQ=20,20;MFRL=163,129;MMQ=60,60;MPOS=39;NALOD=1.54;NLOD=9.51;POPAF=6;RPA=6,7;RU=G;STR;STRQ=93;TLOD=48.22;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SAMD11;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=SAMD11:NM_001385640:exon12:c.2148dupG:p.L719Pfs*186,SAMD11:NM_001385641:exon12:c.2145dupG:p.L718Pfs*186,SAMD11:NM_152486:exon12:c.1656dupG:p.L555Pfs*186;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs763211155;ExAC_ALL=2.708e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.821e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.028:46:12,0:10,0:32,0:17,29,0,0	0/1:53,46:0.473:99:15,9:10,15:29,26:25,28,22,24
chr1	962872	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,42|16,13;DP=107;ECNT=1;GERMQ=85;MBQ=20,20;MFRL=172,152;MMQ=60,60;MPOS=32;NALOD=1.43;NLOD=7.82;POPAF=6;TLOD=64.68;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=KLHL17;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KLHL17:NM_198317:exon6:c.C997T:p.R333C;cytoBand=1p36.33;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.002;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_rankscore=0.789;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.845;MutationAssessor_rankscore=0.827;MutationAssessor_pred=M;FATHMM_score=0.84;FATHMM_converted_rankscore=0.475;FATHMM_pred=T;PROVEAN_score=-4.33;PROVEAN_converted_rankscore=0.767;PROVEAN_pred=D;VEST4_score=0.915;VEST4_rankscore=0.917;MetaSVM_score=-0.366;MetaSVM_rankscore=0.731;MetaSVM_pred=T;MetaLR_score=0.315;MetaLR_rankscore=0.685;MetaLR_pred=T;MetaRNN_score=0.804;MetaRNN_rankscore=0.798;MetaRNN_pred=D;M-CAP_score=0.076;M-CAP_rankscore=0.724;M-CAP_pred=D;REVEL_score=0.466;REVEL_rankscore=0.764;MutPred_score=0.612;MutPred_rankscore=0.745;MVP_score=0.733;MVP_rankscore=0.731;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.905;PrimateAI_rankscore=0.970;PrimateAI_pred=D;DEOGEN2_score=0.249;DEOGEN2_rankscore=0.619;DEOGEN2_pred=T;BayesDel_addAF_score=0.236;BayesDel_addAF_rankscore=0.773;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.102;BayesDel_noAF_rankscore=0.770;BayesDel_noAF_pred=D;ClinPred_score=0.995;ClinPred_rankscore=0.864;ClinPred_pred=D;LIST-S2_score=0.982;LIST-S2_rankscore=0.947;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.215;CADD_raw_rankscore=0.569;CADD_phred=23.9;DANN_score=0.946;DANN_rankscore=0.251;fathmm-MKL_coding_score=0.774;fathmm-MKL_coding_rankscore=0.381;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.361;fathmm-XF_coding_rankscore=0.451;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.269;Eigen-raw_coding_rankscore=0.546;Eigen-PC-raw_coding=0.122;Eigen-PC-raw_coding_rankscore=0.457;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.438;integrated_fitCons_score=0.651;integrated_fitCons_rankscore=0.469;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.44;GERP++_RS=3.46;GERP++_RS_rankscore=0.387;phyloP100way_vertebrate=1.532;phyloP100way_vertebrate_rankscore=0.356;phyloP30way_mammalian=0.072;phyloP30way_mammalian_rankscore=0.153;phastCons100way_vertebrate=0.766;phastCons100way_vertebrate_rankscore=0.293;phastCons30way_mammalian=0.142;phastCons30way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=14.201;SiPhy_29way_logOdds_rankscore=0.652;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.977e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759220112;ExAC_ALL=9.458e-06;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.036:38:12,0:14,0:26,0:17,21,0,0	0/1:39,29:0.436:68:9,6:11,9:22,17:18,21,16,13
chr1	964252	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,17|6,5;DP=51;ECNT=1;GERMQ=18;MBQ=31,20;MFRL=181,170;MMQ=60,60;MPOS=30;NALOD=1.06;NLOD=3;POPAF=3.91;RPA=7,6;RU=C;STR;STRQ=93;TLOD=13.06;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KLHL17;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=9.497e-05;AF_afr=7.158e-05;AF_ami=0;AF_amr=7.327e-05;AF_asj=0.0024;AF_eas=0;AF_fin=0;AF_nfe=6.206e-05;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.081:13:3,0:2,0:10,0:4,9,0,0	0/1:15,11:0.398:26:2,4:5,2:11,7:7,8,6,5
chr1	971445	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,31|13,14;DP=89;ECNT=1;GERMQ=82;MBQ=20,20;MFRL=181,156;MMQ=60,60;MPOS=28;NALOD=1.43;NLOD=7.83;POPAF=6;TLOD=60.03;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLEKHN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.036:42:11,0:15,0:26,0:20,22,0,0	0/1:18,27:0.556:45:8,6:3,8:11,14:9,9,13,14
chr1	972251	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,20|7,6;DP=71;ECNT=1;GERMQ=68;MBQ=33,20;MFRL=183,162;MMQ=60,60;MPOS=31;NALOD=1.4;NLOD=7.18;POPAF=4.61;RPA=7,6;RU=C;STR;STRQ=93;TLOD=14.43;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLEKHN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs773396084;ExAC_ALL=9.648e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.038:31:11,0:7,0:24,0:17,14,0,0	0/1:19,13:0.375:32:8,4:4,3:14,8:13,6,7,6
chr1	1043377	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=60,66|22,20;DP=172;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=151,159;MMQ=60,60;MPOS=32;NALOD=1.52;NLOD=9.33;POPAF=6;TLOD=92.31;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AGRN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AGRN:NM_198576:exon8:c.C1523T:p.T508I;cytoBand=1p36.33;SIFT_score=0.03;SIFT_converted_rankscore=0.454;SIFT_pred=D;SIFT4G_score=0.009;SIFT4G_converted_rankscore=0.668;SIFT4G_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.017;LRT_converted_rankscore=0.279;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=3.46;MutationAssessor_rankscore=0.923;MutationAssessor_pred=M;FATHMM_score=3.03;FATHMM_converted_rankscore=0.089;FATHMM_pred=T;PROVEAN_score=-3.61;PROVEAN_converted_rankscore=0.695;PROVEAN_pred=D;VEST4_score=0.698;VEST4_rankscore=0.703;MetaSVM_score=-0.993;MetaSVM_rankscore=0.319;MetaSVM_pred=T;MetaLR_score=0.085;MetaLR_rankscore=0.332;MetaLR_pred=T;MetaRNN_score=0.865;MetaRNN_rankscore=0.858;MetaRNN_pred=D;M-CAP_score=0.066;M-CAP_rankscore=0.696;M-CAP_pred=D;REVEL_score=0.272;REVEL_rankscore=0.591;MutPred_score=0.723;MutPred_rankscore=0.858;MVP_score=0.791;MVP_rankscore=0.789;MPC_score=0.476;MPC_rankscore=0.468;PrimateAI_score=0.556;PrimateAI_rankscore=0.467;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.054;BayesDel_addAF_rankscore=0.438;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.315;BayesDel_noAF_rankscore=0.431;BayesDel_noAF_pred=T;ClinPred_score=0.976;ClinPred_rankscore=0.712;ClinPred_pred=D;LIST-S2_score=0.855;LIST-S2_rankscore=0.565;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.051;CADD_raw_rankscore=0.532;CADD_phred=23.5;DANN_score=0.995;DANN_rankscore=0.674;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.813;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.594;fathmm-XF_coding_rankscore=0.589;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.337;Eigen-raw_coding_rankscore=0.580;Eigen-PC-raw_coding=0.144;Eigen-PC-raw_coding_rankscore=0.468;GenoCanyon_score=0.989;GenoCanyon_rankscore=0.317;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.76;GERP++_RS=3.84;GERP++_RS_rankscore=0.434;phyloP100way_vertebrate=2.494;phyloP100way_vertebrate_rankscore=0.450;phyloP30way_mammalian=1.022;phyloP30way_mammalian_rankscore=0.399;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.394;phastCons30way_mammalian=0.024;phastCons30way_mammalian_rankscore=0.146;SiPhy_29way_logOdds=14.266;SiPhy_29way_logOdds_rankscore=0.657;Interpro_domain=.\x3bKazal_domain|Kazal_domain|Kazal_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.03:50:14,0:17,0:31,0:21,29,0,0	0/1:76,42:0.354:118:18,10:23,12:41,22:39,37,22,20
chr1	1044386	COSV65067904	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,31|11,11;DP=81;ECNT=1;GERMQ=65;MBQ=20,20;MFRL=141,144;MMQ=60,60;MPOS=38;NALOD=1.35;NLOD=6.32;POPAF=6;TLOD=48.5;AA=p.A596V,p.A734V;CDS=c.1787C>T,c.2201C>T;CNT=3,3;GENE=AGRN_ENST00000620552,AGRN;HGVSC=ENST00000620552.4:c.1787C>T,ENST00000379370.6:c.2201C>T;HGVSG=1:g.1044386C>T,1:g.1044386C>T;HGVSP=ENSP00000484607.1:p.Ala596Val,ENSP00000368678.2:p.Ala734Val;LEGACY_ID=COSM5353056,COSM5353056;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AGRN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AGRN:NM_198576:exon12:c.C2201T:p.A734V;cytoBand=1p36.33;SIFT_score=0.101;SIFT_converted_rankscore=0.304;SIFT_pred=T;SIFT4G_score=0.071;SIFT4G_converted_rankscore=0.435;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.009;LRT_converted_rankscore=0.308;LRT_pred=N;MutationTaster_score=0.965;MutationTaster_converted_rankscore=0.384;MutationTaster_pred=D;MutationAssessor_score=2.625;MutationAssessor_rankscore=0.768;MutationAssessor_pred=M;FATHMM_score=3.51;FATHMM_converted_rankscore=0.050;FATHMM_pred=T;PROVEAN_score=-2.13;PROVEAN_converted_rankscore=0.484;PROVEAN_pred=N;VEST4_score=0.529;VEST4_rankscore=0.598;MetaSVM_score=-1.060;MetaSVM_rankscore=0.117;MetaSVM_pred=T;MetaLR_score=0.053;MetaLR_rankscore=0.225;MetaLR_pred=T;MetaRNN_score=0.566;MetaRNN_rankscore=0.651;MetaRNN_pred=D;M-CAP_score=0.023;M-CAP_rankscore=0.458;M-CAP_pred=T;REVEL_score=0.170;REVEL_rankscore=0.438;MutPred_score=0.709;MutPred_rankscore=0.845;MVP_score=0.726;MVP_rankscore=0.723;MPC_score=0.544;MPC_rankscore=0.515;PrimateAI_score=0.567;PrimateAI_rankscore=0.483;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.155;BayesDel_addAF_rankscore=0.276;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.460;BayesDel_noAF_rankscore=0.266;BayesDel_noAF_pred=T;ClinPred_score=0.934;ClinPred_rankscore=0.601;ClinPred_pred=D;LIST-S2_score=0.869;LIST-S2_rankscore=0.571;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.855;CADD_raw_rankscore=0.739;CADD_phred=26.1;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.744;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.623;fathmm-XF_coding_rankscore=0.607;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.532;Eigen-raw_coding_rankscore=0.690;Eigen-PC-raw_coding=0.442;Eigen-PC-raw_coding_rankscore=0.642;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.419;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.58;GERP++_RS=3.59;GERP++_RS_rankscore=0.403;phyloP100way_vertebrate=3.292;phyloP100way_vertebrate_rankscore=0.515;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.394;phastCons30way_mammalian=0.986;phastCons30way_mammalian_rankscore=0.501;SiPhy_29way_logOdds=13.989;SiPhy_29way_logOdds_rankscore=0.639;Interpro_domain=.\x3bKazal_domain|Kazal_domain|Kazal_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.043:35:8,0:12,0:21,0:16,19,0,0	0/1:22,22:0.5:44:6,6:6,6:12,12:10,12,11,11
chr1	1050505	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,54|18,17;DP=144;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,151;MMQ=60,60;MPOS=22;NALOD=1.41;NLOD=7.22;POPAF=6;TLOD=75.26;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AGRN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AGRN:NM_198576:exon29:c.C5055T:p.D1685D;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.98e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766955342;ExAC_ALL=3.384e-05;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.062e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.038:38:11,0:10,0:24,0:17,21,0,0	0/1:68,35:0.345:103:10,12:26,7:37,19:35,33,18,17
chr1	1051357	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,47|8,7;DP=107;ECNT=1;GERMQ=78;MBQ=20,20;MFRL=163,154;MMQ=60,60;MPOS=19;NALOD=1.53;NLOD=9.93;POPAF=1.19;TLOD=32.13;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AGRN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AGRN:NM_198576:exon31:c.T5358C:p.G1786G;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0812;AF_raw=0.0810;AF_male=0.0778;AF_female=0.0845;AF_afr=0.2465;AF_ami=0.0068;AF_amr=0.0326;AF_asj=0.0031;AF_eas=0;AF_fin=0.0007;AF_nfe=0.0085;AF_oth=0.0728;AF_sas=0.0049;ALL.sites.2015_08=0.0790735;AFR.sites.2015_08=0.2731;ALL.sites.2015_08=0.0790735;EUR.sites.2015_08=0.0099;AMR.sites.2015_08=0.0274;EUR.sites.2015_08=0.0099;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0061;avsnp150=rs17160781;ExAC_ALL=0.0500;ExAC_AFR=0.2964;ExAC_AMR=0.0503;ExAC_EAS=0.0006;ExAC_FIN=0.0057;ExAC_NFE=0.0161;ExAC_OTH=0.0213;ExAC_SAS=0.0039;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:51,0:0.029:51:14,0:14,0:33,0:23,28,0,0	0/1:38,15:0.303:53:13,7:6,1:22,9:19,19,8,7
chr1	1066713	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,52|20,19;DP=146;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,147;MMQ=60,60;MPOS=42;NALOD=1.51;NLOD=8.99;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=37.72;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=LOC105378948;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.03:48:13,0:12,0:30,0:24,24,0,0	0/1:53,39:0.414:92:18,5:7,15:30,21:25,28,20,19
chr1	1071879	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,46|13,12;DP=114;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,163;MMQ=60,60;MPOS=39;NALOD=1.52;NLOD=9.63;POPAF=6;TLOD=47.71;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RNF223;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RNF223:NM_001205252:exon2:c.C688T:p.P230S;cytoBand=1p36.33;SIFT_score=0.023;SIFT_converted_rankscore=0.482;SIFT_pred=D;SIFT4G_score=0.116;SIFT4G_converted_rankscore=0.365;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.695;MutationAssessor_rankscore=0.180;MutationAssessor_pred=N;FATHMM_score=-1.59;FATHMM_converted_rankscore=0.821;FATHMM_pred=D;PROVEAN_score=-1.71;PROVEAN_converted_rankscore=0.407;PROVEAN_pred=N;VEST4_score=0.226;VEST4_rankscore=0.254;MetaSVM_score=-0.597;MetaSVM_rankscore=0.649;MetaSVM_pred=T;MetaLR_score=0.406;MetaLR_rankscore=0.756;MetaLR_pred=T;MetaRNN_score=0.096;MetaRNN_rankscore=0.172;MetaRNN_pred=T;M-CAP_score=0.144;M-CAP_rankscore=0.827;M-CAP_pred=D;REVEL_score=0.134;REVEL_rankscore=0.368;MutPred_score=0.263;MutPred_rankscore=0.208;MVP_score=0.309;MVP_rankscore=0.305;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.371;PrimateAI_rankscore=0.210;PrimateAI_pred=T;DEOGEN2_score=0.012;DEOGEN2_rankscore=0.104;DEOGEN2_pred=T;BayesDel_addAF_score=-0.102;BayesDel_addAF_rankscore=0.361;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.384;BayesDel_noAF_rankscore=0.353;BayesDel_noAF_pred=T;ClinPred_score=0.052;ClinPred_rankscore=0.059;ClinPred_pred=T;LIST-S2_score=0.305;LIST-S2_rankscore=0.058;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.225;CADD_raw_rankscore=0.180;CADD_phred=13.83;DANN_score=0.981;DANN_rankscore=0.385;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_rankscore=0.157;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.059;fathmm-XF_coding_rankscore=0.112;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.786;Eigen-raw_coding_rankscore=0.137;Eigen-PC-raw_coding=-0.900;Eigen-PC-raw_coding_rankscore=0.121;GenoCanyon_score=0.933;GenoCanyon_rankscore=0.271;integrated_fitCons_score=0.517;integrated_fitCons_rankscore=0.214;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.1;GERP++_RS=2.16;GERP++_RS_rankscore=0.267;phyloP100way_vertebrate=0.069;phyloP100way_vertebrate_rankscore=0.144;phyloP30way_mammalian=-0.227;phyloP30way_mammalian_rankscore=0.090;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=8.126;SiPhy_29way_logOdds_rankscore=0.302;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.98e-06;AF_raw=6.975e-06;AF_male=1.44e-05;AF_female=0;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs777360511;ExAC_ALL=9.94e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.029:47:13,0:12,0:32,0:22,25,0,0	0/1:41,25:0.355:66:12,7:9,5:24,13:20,21,13,12
chr1	1091657	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,17|4,3;DP=65;ECNT=1;GERMQ=70;MBQ=20,20;MFRL=193,155;MMQ=60,60;MPOS=55;NALOD=1.35;NLOD=5.54;POPAF=6;RPA=7,6;RU=G;STR;STRQ=93;TLOD=5.44;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=C1orf159;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.044:27:9,0:7,0:19,0:16,11,0,0	0/1:15,7:0.307:22:8,2:2,2:12,5:9,6,4,3
chr1	1197059	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,20|8,6;DP=56;ECNT=1;GERMQ=40;MBQ=20,20;MFRL=156,183;MMQ=60,60;MPOS=48;NALOD=1.32;NLOD=6.02;POPAF=3.65;TLOD=33;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TTLL10;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0003;AF_raw=0.0003;AF_male=0.0004;AF_female=0.0003;AF_afr=0.0001;AF_ami=0;AF_amr=0.0021;AF_asj=0;AF_eas=0;AF_fin=0.0002;AF_nfe=0.0002;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs369902272;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.045:32:7,0:11,0:20,0:16,16,0,0	0/1:10,14:0.563:24:2,5:3,3:6,8:6,4,8,6
chr1	1232859	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,19|7,7;DP=69;ECNT=1;GERMQ=66;MBQ=20,20;MFRL=173,162;MMQ=60,60;MPOS=33;NALOD=1.32;NLOD=5.68;POPAF=6;RPA=7,6;RU=G;STR;STRQ=93;TLOD=14.16;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=B3GALT6;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=B3GALT6:NM_080605:exon1:c.582delG:p.R197Afs*81;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=3.499e-05;AF_raw=3.489e-05;AF_male=5.777e-05;AF_female=1.357e-05;AF_afr=4.77e-05;AF_ami=0;AF_amr=0;AF_asj=0.0003;AF_eas=0;AF_fin=0;AF_nfe=3.104e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs786200941;ExAC_ALL=0.0002;ExAC_AFR=0.0007;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.046:27:8,0:6,0:19,0:15,12,0,0	0/1:19,14:0.409:33:6,3:5,4:12,8:12,7,7,7
chr1	1286751	.	AG	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,27|10,6;DP=88;ECNT=1;GERMQ=83;MBQ=20,20;MFRL=175,140;MMQ=60,60;MPOS=50;NALOD=1.34;NLOD=6.01;POPAF=6;RPA=3,2;RU=G;STR;STRQ=93;TLOD=25.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SCNN1D;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs761129931;ExAC_ALL=8.938e-06;ExAC_AFR=0;ExAC_AMR=8.887e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.044:32:11,0:9,0:20,0:20,12,0,0	0/1:35,16:0.363:51:13,7:7,3:20,11:20,15,10,6
chr1	1314832	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=58,52|2,2;DP=115;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,173;MMQ=60,60;MPOS=62;NALOD=1.43;NLOD=7.83;POPAF=6;TLOD=5.47;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=INTS11;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=INTS11:NM_001256462:exon5:c.G400A:p.G134S,INTS11:NM_001256463:exon5:c.G391A:p.G131S,INTS11:NM_017871:exon7:c.G694A:p.G232S,INTS11:NM_001256460:exon8:c.G607A:p.G203S,INTS11:NM_001256456:exon9:c.G712A:p.G238S;cytoBand=1p36.33;SIFT_score=0.002;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.004;SIFT4G_converted_rankscore=0.742;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.886;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.1;MutationAssessor_rankscore=0.973;MutationAssessor_pred=H;FATHMM_score=0.28;FATHMM_converted_rankscore=0.590;FATHMM_pred=T;PROVEAN_score=-5.64;PROVEAN_converted_rankscore=0.869;PROVEAN_pred=D;VEST4_score=0.858;VEST4_rankscore=0.877;MetaSVM_score=0.277;MetaSVM_rankscore=0.872;MetaSVM_pred=D;MetaLR_score=0.530;MetaLR_rankscore=0.826;MetaLR_pred=D;MetaRNN_score=0.859;MetaRNN_rankscore=0.851;MetaRNN_pred=D;M-CAP_score=0.070;M-CAP_rankscore=0.708;M-CAP_pred=D;REVEL_score=0.632;REVEL_rankscore=0.860;MutPred_score=0.689;MutPred_rankscore=0.826;MVP_score=0.843;MVP_rankscore=0.842;MPC_score=1.453;MPC_rankscore=0.862;PrimateAI_score=0.774;PrimateAI_rankscore=0.781;PrimateAI_pred=T;DEOGEN2_score=0.464;DEOGEN2_rankscore=0.799;DEOGEN2_pred=T;BayesDel_addAF_score=0.362;BayesDel_addAF_rankscore=0.874;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.282;BayesDel_noAF_rankscore=0.872;BayesDel_noAF_pred=D;ClinPred_score=0.999;ClinPred_rankscore=0.948;ClinPred_pred=D;LIST-S2_score=0.993;LIST-S2_rankscore=0.981;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.936;CADD_raw_rankscore=0.764;CADD_phred=26.6;DANN_score=0.999;DANN_rankscore=0.943;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.744;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.883;fathmm-XF_coding_rankscore=0.812;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.975;Eigen-raw_coding_rankscore=0.949;Eigen-PC-raw_coding=0.897;Eigen-PC-raw_coding_rankscore=0.954;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.53;GERP++_RS=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=7.451;phyloP100way_vertebrate_rankscore=0.797;phyloP30way_mammalian=1.023;phyloP30way_mammalian_rankscore=0.404;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.979;phastCons30way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=19.463;SiPhy_29way_logOdds_rankscore=0.949;Interpro_domain=.\x3b.\x3b.\x3bMetallo-beta-lactamase\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.036:47:13,0:13,0:26,0:25,22,0,0	0/1:63,4:0.079:67:15,1:19,1:34,2:33,30,2,2
chr1	1336261	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,44|10,11;DP=131;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,152;MMQ=60,60;MPOS=33;NALOD=1.23;NLOD=9.14;POPAF=6;RPA=7,6;RU=C;STR;STRQ=93;TLOD=18.23;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DVL1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=DVL1:NM_001330311:exon15:c.1968delG:p.P657Hfs*17,DVL1:NM_004421:exon15:c.1893delG:p.P632Hfs*17;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.03:42:11,0:15,0:31,0:23,19,0,0	0/1:52,21:0.3:73:13,7:16,5:29,12:27,25,10,11
chr1	1387956	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,40|16,15;DP=106;ECNT=1;GERMQ=46;MBQ=20,20;MFRL=182,176;MMQ=60,60;MPOS=40;NALOD=1.34;NLOD=6.32;POPAF=3.57;TLOD=64.65;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CCNL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CCNL2:NM_001350497:exon8:c.C450T:p.N150N,CCNL2:NM_030937:exon9:c.C1116T:p.N372N,CCNL2:NM_001320153:exon10:c.C450T:p.N150N,CCNL2:NM_001320155:exon10:c.C450T:p.N150N,CCNL2:NM_001350498:exon10:c.C450T:p.N150N,CCNL2:NM_001350499:exon11:c.C723T:p.N241N,CCNL2:NM_001350500:exon11:c.C723T:p.N241N;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0005;AF_male=0.0005;AF_female=0.0006;AF_afr=0.0017;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0.0009;AF_sas=0;ALL.sites.2015_08=0.000798722;AFR.sites.2015_08=0.003;ALL.sites.2015_08=0.000798722;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs143382296;ExAC_ALL=0.0001;ExAC_AFR=0.0016;ExAC_AMR=8.682e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.043:33:6,0:14,0:21,0:15,18,0,0	0/1:42,31:0.415:73:7,8:15,7:23,16:20,22,16,15
chr1	1390719	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,27|12,11;DP=89;ECNT=1;GERMQ=72;MBQ=20,20;MFRL=167,132;MMQ=60,60;MPOS=22;NALOD=1.37;NLOD=6.26;POPAF=6;RPA=9,8;RU=A;STR;STRQ=37;TLOD=20.84;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CCNL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=6.991e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs777277194;ExAC_ALL=8.138e-05;ExAC_AFR=0;ExAC_AMR=9.645e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.788e-05;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.041:27:9,0:7,0:21,0:14,13,0,0	0/1:32,23:0.424:55:8,7:9,5:18,13:18,14,12,11
chr1	1421007	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,40|6,5;DP=97;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,148;MMQ=60,60;MPOS=44;NALOD=1.42;NLOD=7.15;POPAF=6;RPA=7,6;RU=G;STR;STRQ=93;TLOD=6.49;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=ANKRD65;GeneDetail.refGene=NM_001375660:c.-3delC\x3bNM_001375659:c.-3delC;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs943827735;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.037:39:13,0:9,0:24,0:18,21,0,0	0/1:36,11:0.25:47:7,3:10,3:19,6:17,19,6,5
chr1	1525292	COSV100186769	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=46,47|15,16;DP=125;ECNT=1;GERMQ=79;MBQ=20,20;MFRL=148,136;MMQ=60,60;MPOS=50;NALOD=1.43;NLOD=7.78;POPAF=4.61;TLOD=65.39;AA=p.?,p.?,p.?;CDS=c.1266+1G>A,c.1410+1G>A,c.1029+1G>A;CNT=1,1,1;GENE=ATAD3A_ENST00000378756,ATAD3A,ATAD3A_ENST00000536055;HGVSC=ENST00000378756.7:c.1266+1G>A,ENST00000378755.9:c.1410+1G>A,ENST00000536055.5:c.1029+1G>A;HGVSG=1:g.1525292G>A,1:g.1525292G>A,1:g.1525292G>A;LEGACY_ID=COSM8606782,COSM8606782,COSM8606782;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=splicing;Gene.refGene=ATAD3A;GeneDetail.refGene=NM_001170535:exon12:c.1266+1G>A\x3bNM_018188:exon12:c.1410+1G>A\x3bNM_001170536:exon12:c.1029+1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.112;BayesDel_addAF_rankscore=0.655;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.098;BayesDel_noAF_rankscore=0.768;BayesDel_noAF_pred=D;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=4.552;CADD_raw_rankscore=0.916;CADD_phred=32;DANN_score=0.991;DANN_rankscore=0.525;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.940;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=0.987;Eigen-raw_coding_rankscore=0.953;Eigen-PC-raw_coding=0.768;Eigen-PC-raw_coding_rankscore=0.875;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.432;integrated_fitCons_score=0.257;integrated_fitCons_rankscore=0.044;integrated_confidence_value=0;LINSIGHT=0.947;LINSIGHT_rankscore=0.613;GERP++_NR=4.84;GERP++_RS=4.84;GERP++_RS_rankscore=0.621;phyloP100way_vertebrate=7.789;phyloP100way_vertebrate_rankscore=0.844;phyloP30way_mammalian=1.092;phyloP30way_mammalian_rankscore=0.545;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.148;phastCons30way_mammalian_rankscore=0.209;SiPhy_29way_logOdds=17.004;SiPhy_29way_logOdds_rankscore=0.863;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=2.881e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.097e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs757205195;ExAC_ALL=1.653e-05;ExAC_AFR=0;ExAC_AMR=8.645e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.506e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,0:0.036:43:12,0:11,0:26,0:21,22,0,0	0/1:50,31:0.386:81:11,8:15,7:26,16:25,25,15,16
chr1	1665933	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,56|22,22;DP=159;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,138;MMQ=60,60;MPOS=32;NALOD=1.57;NLOD=10.83;POPAF=6;TLOD=98.68;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLC35E2B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLC35E2B:NM_001110781:exon9:c.G1067T:p.G356V,SLC35E2B:NM_001290264:exon10:c.G1067T:p.G356V;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.911;VEST4_rankscore=0.913;MetaSVM_score=0.672;MetaSVM_rankscore=0.928;MetaSVM_pred=D;MetaLR_score=0.753;MetaLR_rankscore=0.916;MetaLR_pred=D;MetaRNN_score=0.990;MetaRNN_rankscore=0.995;MetaRNN_pred=D;M-CAP_score=0.278;M-CAP_rankscore=0.901;M-CAP_pred=D;REVEL_score=0.843;REVEL_rankscore=0.952;MutPred_score=0.926;MutPred_rankscore=0.988;MVP_score=0.159;MVP_rankscore=0.155;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.597;PrimateAI_rankscore=0.524;PrimateAI_pred=T;DEOGEN2_score=0.502;DEOGEN2_rankscore=0.822;DEOGEN2_pred=D;BayesDel_addAF_score=0.471;BayesDel_addAF_rankscore=0.934;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.438;BayesDel_noAF_rankscore=0.933;BayesDel_noAF_pred=D;ClinPred_score=0.990;ClinPred_rankscore=0.804;ClinPred_pred=D;LIST-S2_score=0.932;LIST-S2_rankscore=0.747;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.166;CADD_raw_rankscore=0.558;CADD_phred=23.8;DANN_score=0.997;DANN_rankscore=0.823;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.754;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.931;fathmm-XF_coding_rankscore=0.919;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.815;Eigen-raw_coding_rankscore=0.870;Eigen-PC-raw_coding=0.713;Eigen-PC-raw_coding_rankscore=0.834;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.71;GERP++_RS=5.71;GERP++_RS_rankscore=0.890;phyloP100way_vertebrate=7.697;phyloP100way_vertebrate_rankscore=0.835;phyloP30way_mammalian=0.939;phyloP30way_mammalian_rankscore=0.338;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.102;phastCons30way_mammalian_rankscore=0.195;SiPhy_29way_logOdds=18.846;SiPhy_29way_logOdds_rankscore=0.922;Interpro_domain=Sugar_phosphate_transporter_domain\x3bSugar_phosphate_transporter_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:52,0:0.026:52:16,0:19,0:36,0:25,27,0,0	0/1:58,44:0.456:102:13,7:17,17:30,25:29,29,22,22
chr1	2030175	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,59|15,12;DP=148;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,163;MMQ=60,60;MPOS=39;NALOD=1.55;NLOD=10.23;POPAF=4.61;TLOD=63.82;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GABRD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GABRD:NM_000815:exon9:c.C1252T:p.R418W;cytoBand=1p36.33;SIFT_score=0.028;SIFT_converted_rankscore=0.461;SIFT_pred=D;SIFT4G_score=0.011;SIFT4G_converted_rankscore=0.648;SIFT4G_pred=D;Polyphen2_HDIV_score=0.876;Polyphen2_HDIV_rankscore=0.482;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.183;Polyphen2_HVAR_rankscore=0.360;Polyphen2_HVAR_pred=B;LRT_score=0.036;LRT_converted_rankscore=0.018;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-1.94;FATHMM_converted_rankscore=0.849;FATHMM_pred=D;PROVEAN_score=-2.72;PROVEAN_converted_rankscore=0.579;PROVEAN_pred=D;VEST4_score=0.184;VEST4_rankscore=0.200;MetaSVM_score=-0.600;MetaSVM_rankscore=0.648;MetaSVM_pred=T;MetaLR_score=0.302;MetaLR_rankscore=0.673;MetaLR_pred=T;MetaRNN_score=0.150;MetaRNN_rankscore=0.284;MetaRNN_pred=T;M-CAP_score=0.178;M-CAP_rankscore=0.853;M-CAP_pred=D;REVEL_score=0.296;REVEL_rankscore=0.620;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.433;MVP_rankscore=0.430;MPC_score=1.111;MPC_rankscore=0.780;PrimateAI_score=0.601;PrimateAI_rankscore=0.531;PrimateAI_pred=T;DEOGEN2_score=0.572;DEOGEN2_rankscore=0.859;DEOGEN2_pred=D;BayesDel_addAF_score=-0.273;BayesDel_addAF_rankscore=0.115;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.329;BayesDel_noAF_rankscore=0.416;BayesDel_noAF_pred=T;ClinPred_score=0.045;ClinPred_rankscore=0.046;ClinPred_pred=T;LIST-S2_score=0.901;LIST-S2_rankscore=0.655;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.339;CADD_raw_rankscore=0.377;CADD_phred=21.8;DANN_score=0.976;DANN_rankscore=0.350;fathmm-MKL_coding_score=0.162;fathmm-MKL_coding_rankscore=0.193;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.287;fathmm-XF_coding_rankscore=0.399;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.838;Eigen-raw_coding_rankscore=0.123;Eigen-PC-raw_coding=-0.935;Eigen-PC-raw_coding_rankscore=0.113;GenoCanyon_score=0.132;GenoCanyon_rankscore=0.171;integrated_fitCons_score=0.646;integrated_fitCons_rankscore=0.454;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.82;GERP++_RS=0.383;GERP++_RS_rankscore=0.155;phyloP100way_vertebrate=1.129;phyloP100way_vertebrate_rankscore=0.310;phyloP30way_mammalian=-0.891;phyloP30way_mammalian_rankscore=0.028;phastCons100way_vertebrate=0.534;phastCons100way_vertebrate_rankscore=0.272;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=6.085;SiPhy_29way_logOdds_rankscore=0.192;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=9.768e-05;AF_raw=9.764e-05;AF_male=8.638e-05;AF_female=0.0001;AF_afr=4.755e-05;AF_ami=0;AF_amr=0.0004;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=7.744e-05;AF_oth=0.0009;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs200019257;ExAC_ALL=8.294e-05;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=8.163e-05;ExAC_OTH=0.0013;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:59,0:0.027:59:17,0:13,0:34,0:28,31,0,0	0/1:61,27:0.333:88:18,4:15,11:35,17:33,28,15,12
chr1	2182250	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,74|14,14;DP=184;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,148;MMQ=60,60;MPOS=31;NALOD=1.7;NLOD=13.97;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=24.1;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_exonic;Gene.refGene=PRKCZ-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.987e-06;AF_raw=6.977e-06;AF_male=0;AF_female=1.355e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.55e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:70,0:0.02:70:23,0:16,0:47,0:32,38,0,0	0/1:68,28:0.295:96:16,8:19,7:39,16:32,36,14,14
chr1	2304527	COSV66012855	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,29|10,10;DP=74;ECNT=1;GERMQ=60;MBQ=20,20;MFRL=177,150;MMQ=60,60;MPOS=43;NALOD=1.3;NLOD=5.67;POPAF=6;TLOD=46.72;AA=p.R570H;CDS=c.1709G>A;CNT=2;GENE=SKI;HGVSC=ENST00000378536.4:c.1709G>A;HGVSG=1:g.2304527G>A;HGVSP=ENSP00000367797.4:p.Arg570His;LEGACY_ID=COSM6419626;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SKI;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SKI:NM_003036:exon5:c.G1709A:p.R570H;cytoBand=1p36.32;SIFT_score=0.069;SIFT_converted_rankscore=0.355;SIFT_pred=T;SIFT4G_score=0.431;SIFT4G_converted_rankscore=0.137;SIFT4G_pred=T;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.991;Polyphen2_HVAR_rankscore=0.797;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.513;MutationTaster_pred=D;MutationAssessor_score=2.485;MutationAssessor_rankscore=0.724;MutationAssessor_pred=M;FATHMM_score=-4.02;FATHMM_converted_rankscore=0.964;FATHMM_pred=D;PROVEAN_score=-1.21;PROVEAN_converted_rankscore=0.308;PROVEAN_pred=N;VEST4_score=0.655;VEST4_rankscore=0.665;MetaSVM_score=0.933;MetaSVM_rankscore=0.961;MetaSVM_pred=D;MetaLR_score=0.914;MetaLR_rankscore=0.972;MetaLR_pred=D;MetaRNN_score=0.796;MetaRNN_rankscore=0.791;MetaRNN_pred=D;M-CAP_score=0.424;M-CAP_rankscore=0.939;M-CAP_pred=D;REVEL_score=0.565;REVEL_rankscore=0.824;MutPred_score=0.259;MutPred_rankscore=0.202;MVP_score=0.751;MVP_rankscore=0.749;MPC_score=0.873;MPC_rankscore=0.695;PrimateAI_score=0.815;PrimateAI_rankscore=0.842;PrimateAI_pred=D;DEOGEN2_score=0.513;DEOGEN2_rankscore=0.828;DEOGEN2_pred=D;BayesDel_addAF_score=0.227;BayesDel_addAF_rankscore=0.764;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.088;BayesDel_noAF_rankscore=0.761;BayesDel_noAF_pred=D;ClinPred_score=0.836;ClinPred_rankscore=0.490;ClinPred_pred=D;LIST-S2_score=0.971;LIST-S2_rankscore=0.896;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.722;CADD_raw_rankscore=0.700;CADD_phred=25.5;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.936;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.841;fathmm-XF_coding_rankscore=0.758;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.681;Eigen-raw_coding_rankscore=0.784;Eigen-PC-raw_coding=0.639;Eigen-PC-raw_coding_rankscore=0.778;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.37;GERP++_RS=4.37;GERP++_RS_rankscore=0.518;phyloP100way_vertebrate=6.260;phyloP100way_vertebrate_rankscore=0.725;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.820;phastCons30way_mammalian_rankscore=0.341;SiPhy_29way_logOdds=16.053;SiPhy_29way_logOdds_rankscore=0.806;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.976e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.354e-05;AF_afr=2.377e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.048:30:8,0:9,0:19,0:14,16,0,0	0/1:22,20:0.481:42:4,5:4,5:13,12:9,13,10,10
chr1	2334896	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,50|14,15;DP=121;ECNT=1;GERMQ=91;MBQ=20,20;MFRL=155,139;MMQ=60,60;MPOS=34;NALOD=1.43;NLOD=7.78;POPAF=6;TLOD=57.83;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MORN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=1.44e-05;AF_female=1.354e-05;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs909171667;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:45,0:0.036:45:12,0:11,0:26,0:19,26,0,0	0/1:45,29:0.368:74:14,8:7,6:26,15:21,24,14,15
chr1	3480399	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,20|2,2;DP=69;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=190,180;MMQ=60,60;MPOS=19;NALOD=1.25;NLOD=5.07;POPAF=6;TLOD=5.09;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ARHGEF16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.053:24:8,0:8,0:17,0:17,7,0,0	0/1:38,4:0.103:42:13,1:12,1:25,2:25,13,2,2
chr1	3493839	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,60|20,18;DP=167;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,132;MMQ=60,60;MPOS=41;NALOD=1.55;NLOD=10.16;POPAF=6;RPA=7,6;RU=C;STR;STRQ=93;TLOD=32.44;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MEGF6;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MEGF6:NM_001409:exon34:c.4318delG:p.A1440Hfs*78;cytoBand=1p36.32;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759225724;ExAC_ALL=5.478e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.88e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.028:56:19,0:10,0:34,0:28,28,0,0	0/1:68,38:0.355:106:22,10:14,10:37,20:36,32,20,18
chr1	3505388	.	G	GC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,35|10,12;DP=102;ECNT=1;GERMQ=63;MBQ=20,20;MFRL=190,175;MMQ=60,60;MPOS=32;NALOD=1.5;NLOD=9;POPAF=2.9;RPA=6,7;RU=C;STR;STRQ=93;TLOD=25.08;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MEGF6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0017;AF_raw=0.0022;AF_male=0.0016;AF_female=0.0017;AF_afr=0.0034;AF_ami=0;AF_amr=0.0018;AF_asj=0;AF_eas=0.0028;AF_fin=0.0001;AF_nfe=0.0009;AF_oth=0.0031;AF_sas=0.0004;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs751615455;ExAC_ALL=0.0005;ExAC_AFR=0.0034;ExAC_AMR=0.0006;ExAC_EAS=0.0014;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.031:39:8,0:15,0:30,0:21,18,0,0	0/1:35,22:0.427:57:8,5:9,5:19,14:18,17,10,12
chr1	3730057	COSV60700670	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=88,85|17,17;DP=212;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=154,149;MMQ=60,60;MPOS=47;NALOD=1.7;NLOD=14.75;POPAF=2.75;TLOD=71.91;AA=p.?,p.H369%3D,p.?,p.?,p.?,p.H418%3D,p.?,p.H347%3D,p.H418%3D,p.H369%3D,p.?;CDS=c.1196+609C>T,c.1107C>T,c.1196+609C>T,c.1196+609C>T,c.1049+609C>T,c.1254C>T,c.1196+609C>T,c.1041C>T,c.1254C>T,c.1107C>T,c.1196+609C>T;CNT=1,1,1,1,1,1,1,1,1,1,1;GENE=TP73_ENST00000604074,TP73_ENST00000378288,TP73_ENST00000603362,TP73_ENST00000346387,TP73_ENST00000378280,TP73,TP73_ENST00000357733,TP73_ENST00000378290,TP73_ENST00000354437,TP73_ENST00000378285,TP73_ENST00000604479;HGVSC=ENST00000604074.5:c.1196+609C>T,ENST00000378288.8:c.1107C>T,ENST00000603362.5:c.1196+609C>T,ENST00000346387.8:c.1196+609C>T,ENST00000378280.5:c.1049+609C>T,ENST00000378295.8:c.1254C>T,ENST00000357733.7:c.1196+609C>T,ENST00000378290.4:c.1041C>T,ENST00000354437.8:c.1254C>T,ENST00000378285.5:c.1107C>T,ENST00000604479.5:c.1196+609C>T;HGVSG=1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T,1:g.3730057C>T;HGVSP=ENSP00000367537.4:p.His369%3D,ENSP00000367545.4:p.His418%3D,ENSP00000367539.4:p.His347%3D,ENSP00000346423.4:p.His418%3D,ENSP00000367534.1:p.His369%3D;LEGACY_ID=COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431,COSM4007431;STRAND=+,+,+,+,+,+,+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TP73;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TP73:NM_001126240:exon9:c.C1107T:p.H369H,TP73:NM_001126241:exon9:c.C1107T:p.H369H,TP73:NM_001204192:exon9:c.C1041T:p.H347H,TP73:NM_001204184:exon11:c.C1254T:p.H418H,TP73:NM_005427:exon11:c.C1254T:p.H418H;cytoBand=1p36.32;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0026;AF_raw=0.0026;AF_male=0.0024;AF_female=0.0028;AF_afr=0.0078;AF_ami=0;AF_amr=0.0026;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.195e-05;AF_oth=0.0042;AF_sas=0.0007;ALL.sites.2015_08=0.00139776;AFR.sites.2015_08=0.003;ALL.sites.2015_08=0.00139776;EUR.sites.2015_08=.;AMR.sites.2015_08=0.0029;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.001;avsnp150=rs139554277;ExAC_ALL=0.0013;ExAC_AFR=0.0097;ExAC_AMR=0.0007;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.443e-05;ExAC_OTH=0.0075;ExAC_SAS=0.0019;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:84,0:0.019:84:18,0:31,0:49,0:41,43,0,0	0/1:89,34:0.29:123:21,10:26,9:48,19:47,42,17,17
chr1	3732940	COSV60702409	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,49|28,28;DP=158;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=164,144;MMQ=60,60;MPOS=47;NALOD=1.45;NLOD=7.82;POPAF=6;TLOD=123.76;AA=p.R542H,p.R591H,p.?,p.R495H,p.?,p.R510H,p.R520H,p.?,p.R495H,p.?,p.R510H;CDS=c.1625G>A,c.1772G>A,c.*178G>A,c.1484G>A,c.*178G>A,c.1529G>A,c.1559G>A,c.*195G>A,c.1484G>A,c.*178G>A,c.1529G>A;CNT=2,2,2,2,2,2,2,2,2,2,2;GENE=TP73_ENST00000378288,TP73,TP73_ENST00000604074,TP73_ENST00000346387,TP73_ENST00000354437,TP73_ENST00000603362,TP73_ENST00000378290,TP73_ENST00000378280,TP73_ENST00000604479,TP73_ENST00000378285,TP73_ENST00000357733;HGVSC=ENST00000378288.8:c.1625G>A,ENST00000378295.8:c.1772G>A,ENST00000604074.5:c.*178G>A,ENST00000346387.8:c.1484G>A,ENST00000354437.8:c.*178G>A,ENST00000603362.5:c.1529G>A,ENST00000378290.4:c.1559G>A,ENST00000378280.5:c.*195G>A,ENST00000604479.5:c.1484G>A,ENST00000378285.5:c.*178G>A,ENST00000357733.7:c.1529G>A;HGVSG=1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A,1:g.3732940G>A;HGVSP=ENSP00000367537.4:p.Arg542His,ENSP00000367545.4:p.Arg591His,ENSP00000340740.4:p.Arg495His,ENSP00000474626.1:p.Arg510His,ENSP00000367539.4:p.Arg520His,ENSP00000474322.1:p.Arg495His,ENSP00000350366.3:p.Arg510His;LEGACY_ID=COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640,COSM3689640;STRAND=+,+,+,+,+,+,+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TP73;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TP73:NM_001204190:exon10:c.G1382A:p.R461H,TP73:NM_001204191:exon10:c.G1337A:p.R446H,TP73:NM_001126240:exon12:c.G1625A:p.R542H,TP73:NM_001204187:exon12:c.G1529A:p.R510H,TP73:NM_001204188:exon12:c.G1484A:p.R495H,TP73:NM_001204192:exon12:c.G1559A:p.R520H,TP73:NM_005427:exon14:c.G1772A:p.R591H;cytoBand=1p36.32;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.003;SIFT4G_converted_rankscore=0.794;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_rankscore=0.262;MutationAssessor_pred=L;FATHMM_score=-2.98;FATHMM_converted_rankscore=0.921;FATHMM_pred=D;PROVEAN_score=-2.06;PROVEAN_converted_rankscore=0.472;PROVEAN_pred=N;VEST4_score=0.899;VEST4_rankscore=0.948;MetaSVM_score=0.795;MetaSVM_rankscore=0.944;MetaSVM_pred=D;MetaLR_score=0.800;MetaLR_rankscore=0.932;MetaLR_pred=D;MetaRNN_score=0.646;MetaRNN_rankscore=0.693;MetaRNN_pred=D;M-CAP_score=0.500;M-CAP_rankscore=0.951;M-CAP_pred=D;REVEL_score=0.814;REVEL_rankscore=0.941;MutPred_score=0.572;MutPred_rankscore=0.696;MVP_score=0.949;MVP_rankscore=0.949;MPC_score=1.064;MPC_rankscore=0.766;PrimateAI_score=0.933;PrimateAI_rankscore=0.992;PrimateAI_pred=D;DEOGEN2_score=0.611;DEOGEN2_rankscore=0.877;DEOGEN2_pred=D;BayesDel_addAF_score=0.442;BayesDel_addAF_rankscore=0.921;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.397;BayesDel_noAF_rankscore=0.920;BayesDel_noAF_pred=D;ClinPred_score=0.794;ClinPred_rankscore=0.459;ClinPred_pred=D;LIST-S2_score=0.983;LIST-S2_rankscore=0.945;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=4.694;CADD_raw_rankscore=0.924;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.601;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.935;fathmm-XF_coding_rankscore=0.930;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.627;Eigen-raw_coding_rankscore=0.749;Eigen-PC-raw_coding=0.621;Eigen-PC-raw_coding_rankscore=0.765;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.632;integrated_fitCons_rankscore=0.410;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.53;GERP++_RS=4.53;GERP++_RS_rankscore=0.550;phyloP100way_vertebrate=9.423;phyloP100way_vertebrate_rankscore=0.967;phyloP30way_mammalian=1.168;phyloP30way_mammalian_rankscore=0.723;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=16.243;SiPhy_29way_logOdds_rankscore=0.822;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.708e-05;AF_afr=4.757e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs769809364;ExAC_ALL=2.157e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.97e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.034:40:13,0:12,0:26,0:21,19,0,0	0/1:58,56:0.456:114:13,12:17,17:35,29:28,30,28,28
chr1	5877020	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,13|2,1;DP=39;ECNT=1;GERMQ=63;MBQ=20,20;MFRL=177,151;MMQ=60,60;MPOS=33;NALOD=1.11;NLOD=3.61;POPAF=6;TLOD=5.77;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NPHP4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.31;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.071:16:5,0:6,0:12,0:11,5,0,0	0/1:18,3:0.213:21:3,1:7,1:10,2:10,8,2,1
chr1	6040622	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=62,72|19,23;DP=180;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,157;MMQ=60,60;MPOS=40;NALOD=1.5;NLOD=8.98;POPAF=6;TLOD=89.71;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=KCNAB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNAB2:NM_001199860:exon2:c.G54A:p.T18T,KCNAB2:NM_001199861:exon2:c.G54A:p.T18T,KCNAB2:NM_003636:exon2:c.G54A:p.T18T,KCNAB2:NM_172130:exon2:c.G54A:p.T18T;cytoBand=1p36.31;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=0.000399361;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000399361;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=0.001;avsnp150=rs201737295;ExAC_ALL=5.941e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.547e-05;ExAC_OTH=0;ExAC_SAS=0.0004;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.031:49:17,0:10,0:30,0:23,26,0,0	0/1:85,42:0.338:127:23,13:23,9:48,24:39,46,19,23
chr1	6072621	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,2|4,1;DP=23;ECNT=1;GERMQ=36;MBQ=35,34;MFRL=226,233;MMQ=60,60;MPOS=38;NALOD=1.06;NLOD=3.01;POPAF=6;TLOD=14.57;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KCNAB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.31;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs923075318;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.081:12:3,0:7,0:10,0:10,2,0,0	0/1:2,5:0.63:7:0,0:2,4:2,4:2,0,4,1
chr1	6124696	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,2|3,0;DP=17;ECNT=1;GERMQ=32;MBQ=32,31;MFRL=200,0;MMQ=60,60;MPOS=35;NALOD=0.966;NLOD=2.29;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=5.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CHD5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.31;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:8,0:0.098:8:2,0:5,0:8,0:7,1,0,0	0/1:4,3:0.446:7:3,2:0,1:4,3:3,1,3,0
chr1	6197724	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,45|40,43;DP=173;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,147;MMQ=60,60;MPOS=36;NALOD=-0.02425;NLOD=8.27;POPAF=6;RPA=8,7;RU=T;STR;STRQ=93;TLOD=91.96;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RPL22;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=RPL22:NM_000983:exon2:c.44delA:p.K15Rfs*5;cytoBand=1p36.31;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=6.977e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759765382;ExAC_ALL=0.0003;ExAC_AFR=9.726e-05;ExAC_AMR=8.758e-05;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:66,4:0.063:70:18,1:16,1:41,2:29,37,2,2	0/1:13,79:0.822:92:2,15:3,24:9,45:5,8,38,41
chr1	6281149	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=58,49|18,19;DP=148;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,152;MMQ=60,60;MPOS=36;NALOD=1.52;NLOD=9.28;POPAF=6;TLOD=84.39;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ACOT7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACOT7:NM_007274:exon8:c.G967A:p.V323M,ACOT7:NM_181864:exon8:c.G997A:p.V333M,ACOT7:NM_181865:exon8:c.G907A:p.V303M,ACOT7:NM_181866:exon8:c.G844A:p.V282M;cytoBand=1p36.31;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_rankscore=0.789;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=3.98;MutationAssessor_rankscore=0.966;MutationAssessor_pred=H;FATHMM_score=0.41;FATHMM_converted_rankscore=0.571;FATHMM_pred=T;PROVEAN_score=-2.68;PROVEAN_converted_rankscore=0.573;PROVEAN_pred=D;VEST4_score=0.722;VEST4_rankscore=0.763;MetaSVM_score=0.300;MetaSVM_rankscore=0.876;MetaSVM_pred=D;MetaLR_score=0.487;MetaLR_rankscore=0.805;MetaLR_pred=T;MetaRNN_score=0.526;MetaRNN_rankscore=0.629;MetaRNN_pred=D;M-CAP_score=0.110;M-CAP_rankscore=0.787;M-CAP_pred=D;REVEL_score=0.327;REVEL_rankscore=0.653;MutPred_score=0.534;MutPred_rankscore=0.643;MVP_score=0.519;MVP_rankscore=0.515;MPC_score=1.716;MPC_rankscore=0.905;PrimateAI_score=0.675;PrimateAI_rankscore=0.635;PrimateAI_pred=T;DEOGEN2_score=0.627;DEOGEN2_rankscore=0.884;DEOGEN2_pred=D;BayesDel_addAF_score=0.068;BayesDel_addAF_rankscore=0.606;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.140;BayesDel_noAF_rankscore=0.601;BayesDel_noAF_pred=T;ClinPred_score=0.998;ClinPred_rankscore=0.932;ClinPred_pred=D;LIST-S2_score=0.985;LIST-S2_rankscore=0.962;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.888;CADD_raw_rankscore=0.749;CADD_phred=26.3;DANN_score=0.999;DANN_rankscore=0.960;fathmm-MKL_coding_score=0.909;fathmm-MKL_coding_rankscore=0.525;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.686;fathmm-XF_coding_rankscore=0.648;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.806;Eigen-raw_coding_rankscore=0.865;Eigen-PC-raw_coding=0.684;Eigen-PC-raw_coding_rankscore=0.812;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.744;integrated_fitCons_rankscore=0.983;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.69;GERP++_RS=4.69;GERP++_RS_rankscore=0.585;phyloP100way_vertebrate=5.756;phyloP100way_vertebrate_rankscore=0.684;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.993;phastCons30way_mammalian_rankscore=0.551;SiPhy_29way_logOdds=16.605;SiPhy_29way_logOdds_rankscore=0.847;Interpro_domain=.\x3b.\x3b.\x3bHotdog_acyl-CoA_thioesterase_(ACOT)-type_domain\x3b.\x3b.\x3bHotdog_acyl-CoA_thioesterase_(ACOT)-type_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.975e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.353e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.548e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:51,0:0.03:51:13,0:16,0:31,0:28,23,0,0	0/1:56,37:0.396:93:12,12:17,6:31,20:30,26,18,19
chr1	6469352	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,28|2,2;DP=57;ECNT=1;GERMQ=87;MBQ=20,20;MFRL=157,113;MMQ=60,60;MPOS=29;NALOD=1.32;NLOD=6.02;POPAF=6;TLOD=6.85;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PLEKHG5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PLEKHG5:NM_001042664:exon18:c.A2032G:p.T678A,PLEKHG5:NM_001042665:exon18:c.A2032G:p.T678A,PLEKHG5:NM_001265593:exon18:c.A2239G:p.T747A,PLEKHG5:NM_001265594:exon18:c.A2032G:p.T678A,PLEKHG5:NM_020631:exon18:c.A2032G:p.T678A,PLEKHG5:NM_001042663:exon19:c.A2143G:p.T715A,PLEKHG5:NM_001265592:exon19:c.A2143G:p.T715A,PLEKHG5:NM_198681:exon19:c.A2032G:p.T678A;cytoBand=1p36.31;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;SIFT4G_score=1.0;SIFT4G_converted_rankscore=0.012;SIFT4G_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.075;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.044;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=N;MutationTaster_score=0.770;MutationTaster_converted_rankscore=0.352;MutationTaster_pred=D;MutationAssessor_score=-1.3;MutationAssessor_rankscore=0.007;MutationAssessor_pred=N;FATHMM_score=0.08;FATHMM_converted_rankscore=0.616;FATHMM_pred=T;PROVEAN_score=1.31;PROVEAN_converted_rankscore=0.009;PROVEAN_pred=N;VEST4_score=0.06;VEST4_rankscore=0.050;MetaSVM_score=-1.074;MetaSVM_rankscore=0.086;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.142;MetaLR_pred=T;MetaRNN_score=0.015;MetaRNN_rankscore=0.003;MetaRNN_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.397;M-CAP_pred=T;REVEL_score=0.077;REVEL_rankscore=0.229;MutPred_score=0.489;MutPred_rankscore=0.574;MVP_score=0.061;MVP_rankscore=0.051;MPC_score=0.254;MPC_rankscore=0.280;PrimateAI_score=0.361;PrimateAI_rankscore=0.195;PrimateAI_pred=T;DEOGEN2_score=0.069;DEOGEN2_rankscore=0.336;DEOGEN2_pred=T;BayesDel_addAF_score=-0.248;BayesDel_addAF_rankscore=0.143;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.594;BayesDel_noAF_rankscore=0.133;BayesDel_noAF_pred=T;ClinPred_score=0.030;ClinPred_rankscore=0.019;ClinPred_pred=T;LIST-S2_score=0.767;LIST-S2_rankscore=0.394;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=0.772;CADD_raw_rankscore=0.123;CADD_phred=9.115;DANN_score=0.716;DANN_rankscore=0.097;fathmm-MKL_coding_score=0.230;fathmm-MKL_coding_rankscore=0.219;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.099;fathmm-XF_coding_rankscore=0.199;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.194;Eigen-raw_coding_rankscore=0.051;Eigen-PC-raw_coding=-0.956;Eigen-PC-raw_coding_rankscore=0.108;GenoCanyon_score=0.989;GenoCanyon_rankscore=0.318;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.52;GERP++_RS=2.56;GERP++_RS_rankscore=0.298;phyloP100way_vertebrate=1.356;phyloP100way_vertebrate_rankscore=0.337;phyloP30way_mammalian=-0.207;phyloP30way_mammalian_rankscore=0.096;phastCons100way_vertebrate=0.732;phastCons100way_vertebrate_rankscore=0.289;phastCons30way_mammalian=0.956;phastCons30way_mammalian_rankscore=0.426;SiPhy_29way_logOdds=6.137;SiPhy_29way_logOdds_rankscore=0.195;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3bPleckstrin_homology_domain|Pleckstrin_homology_domain\x3bPleckstrin_homology_domain|Pleckstrin_homology_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.045:33:9,0:11,0:20,0:15,18,0,0	0/1:20,4:0.2:24:6,2:5,0:11,2:10,10,2,2
chr1	6576973	COSV100039661	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=58,51|2,2;DP=115;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=150,178;MMQ=60,60;MPOS=41;NALOD=1.46;NLOD=8.38;POPAF=4.31;TLOD=5.34;AA=p.S499%3D,p.S245%3D;CDS=c.1497C>T,c.735C>T;CNT=1,1;GENE=TAS1R1,TAS1R1_ENST00000351136;HGVSC=ENST00000333172.10:c.1497C>T,ENST00000351136.7:c.735C>T;HGVSG=1:g.6576973C>T,1:g.6576973C>T;HGVSP=ENSP00000331867.6:p.Ser499%3D,ENSP00000312558.5:p.Ser245%3D;LEGACY_ID=COSM9029773,COSM9029773;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TAS1R1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TAS1R1:NM_177540:exon4:c.C735T:p.S245S,TAS1R1:NM_138697:exon5:c.C1497T:p.S499S;cytoBand=1p36.31;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.395e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.707e-05;AF_afr=2.377e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.548e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs756086033;ExAC_ALL=8.238e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.056e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.033:44:9,0:14,0:28,0:24,20,0,0	0/1:65,4:0.075:69:19,0:17,2:36,2:34,31,2,2
chr1	7661834	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=59,65|16,16;DP=156;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,158;MMQ=60,60;MPOS=41;NALOD=1.57;NLOD=10.79;POPAF=6;TLOD=66.99;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CAMTA1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAMTA1:NM_001349608:exon7:c.G683A:p.R228Q,CAMTA1:NM_001349612:exon7:c.G683A:p.R228Q,CAMTA1:NM_001349609:exon8:c.G773A:p.R258Q,CAMTA1:NM_001349610:exon8:c.G773A:p.R258Q,CAMTA1:NM_015215:exon8:c.G773A:p.R258Q;cytoBand=1p36.23;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;SIFT4G_score=0.096;SIFT4G_converted_rankscore=0.393;SIFT4G_pred=T;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.656;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.559;Polyphen2_HVAR_rankscore=0.495;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=0.43;FATHMM_converted_rankscore=0.568;FATHMM_pred=T;PROVEAN_score=-2.33;PROVEAN_converted_rankscore=0.516;PROVEAN_pred=N;VEST4_score=0.68;VEST4_rankscore=0.687;MetaSVM_score=-0.681;MetaSVM_rankscore=0.613;MetaSVM_pred=T;MetaLR_score=0.203;MetaLR_rankscore=0.560;MetaLR_pred=T;MetaRNN_score=0.637;MetaRNN_rankscore=0.688;MetaRNN_pred=D;M-CAP_score=0.098;M-CAP_rankscore=0.769;M-CAP_pred=D;REVEL_score=0.244;REVEL_rankscore=0.555;MutPred_score=0.201;MutPred_rankscore=0.115;MVP_score=0.702;MVP_rankscore=0.699;MPC_score=1.218;MPC_rankscore=0.810;PrimateAI_score=0.810;PrimateAI_rankscore=0.835;PrimateAI_pred=D;DEOGEN2_score=0.083;DEOGEN2_rankscore=0.371;DEOGEN2_pred=T;BayesDel_addAF_score=0.052;BayesDel_addAF_rankscore=0.586;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.164;BayesDel_noAF_rankscore=0.580;BayesDel_noAF_pred=T;ClinPred_score=0.940;ClinPred_rankscore=0.612;ClinPred_pred=D;LIST-S2_score=0.980;LIST-S2_rankscore=0.930;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=4.367;CADD_raw_rankscore=0.896;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.941;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.857;fathmm-XF_coding_rankscore=0.774;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.644;Eigen-raw_coding_rankscore=0.760;Eigen-PC-raw_coding=0.663;Eigen-PC-raw_coding_rankscore=0.796;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.77;GERP++_RS=4.77;GERP++_RS_rankscore=0.604;phyloP100way_vertebrate=9.833;phyloP100way_vertebrate_rankscore=0.983;phyloP30way_mammalian=1.172;phyloP30way_mammalian_rankscore=0.730;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.998;phastCons30way_mammalian_rankscore=0.659;SiPhy_29way_logOdds=18.203;SiPhy_29way_logOdds_rankscore=0.898;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs770106089;ExAC_ALL=9.127e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.659e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.026:60:16,0:16,0:36,0:28,32,0,0	0/1:64,32:0.346:96:18,7:11,10:33,17:31,33,16,16
chr1	7771242	.	G	GC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,5|4,2;DP=23;ECNT=1;GERMQ=22;MBQ=20,20;MFRL=183,178;MMQ=60,60;MPOS=36;NALOD=0.954;NLOD=2.4;POPAF=6;RPA=4,5;RU=C;STR;STRQ=93;TLOD=8.98;ANNOVAR_DATE=2020-06-08;Func.refGene=upstream;Gene.refGene=VAMP3;GeneDetail.refGene=dist\x3d54;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.23;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.169e-05;AF_raw=7.043e-05;AF_male=4.46e-05;AF_female=9.693e-05;AF_afr=0;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0.0001;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:10,0:0.1:10:4,0:2,0:8,0:7,3,0,0	0/1:6,6:0.5:12:1,0:3,3:4,4:4,2,4,2
chr1	7844033	.	A	AT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,19|10,12;DP=58;ECNT=1;GERMQ=27;MBQ=20,20;MFRL=190,171;MMQ=60,60;MPOS=33;NALOD=0.501;NLOD=3.65;POPAF=4.01;RPA=9,10;RU=T;STR;STRQ=89;TLOD=20.94;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=PER3;GeneDetail.refGene=NM_001289861:c.*1278_*1279insT\x3bNM_016831:c.*1278_*1279insT\x3bNM_001377276:c.*1278_*1279insT\x3bNM_001377275:c.*1278_*1279insT\x3bNM_001289864:c.*1278_*1279insT\x3bNM_001289863:c.*1278_*1279insT\x3bNM_001289862:c.*1278_*1279insT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.23;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.039e-05;AF_raw=9.793e-05;AF_male=5.816e-05;AF_female=8.186e-05;AF_afr=7.213e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=4.669e-05;AF_oth=0.0005;AF_sas=0.0007;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:25,2:0.09:27:5,1:4,0:18,1:9,16,1,1	0/1:5,20:0.764:25:2,7:0,3:3,12:2,3,9,11
chr1	8362823	COSV61937902	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,62|13,13;DP=142;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,138;MMQ=60,60;MPOS=27;NALOD=1.52;NLOD=9.63;POPAF=6;TLOD=54.14;AA=p.R320W,p.R588W,p.R588W,p.R34W,p.?;CDS=c.958C>T,c.1762C>T,c.1762C>T,c.100C>T,c.1540+1923C>T;CNT=1,1,1,1,1;GENE=RERE_ENST00000377464,RERE,RERE_ENST00000400908,RERE_ENST00000476556,RERE_ENST00000400907;HGVSC=ENST00000377464.5:c.958C>T,ENST00000337907.7:c.1762C>T,ENST00000400908.6:c.1762C>T,ENST00000476556.5:c.100C>T,ENST00000400907.6:c.1540+1923C>T;HGVSG=1:g.8362823G>A,1:g.8362823G>A,1:g.8362823G>A,1:g.8362823G>A,1:g.8362823G>A;HGVSP=ENSP00000366684.1:p.Arg320Trp,ENSP00000338629.3:p.Arg588Trp,ENSP00000383700.2:p.Arg588Trp,ENSP00000422246.1:p.Arg34Trp;LEGACY_ID=COSM4010191,COSM4010191,COSM4010191,COSM4010191,COSM4010191;STRAND=-,-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RERE;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RERE:NM_001042682:exon6:c.C100T:p.R34W,RERE:NM_001042681:exon16:c.C1762T:p.R588W,RERE:NM_012102:exon17:c.C1762T:p.R588W;cytoBand=1p36.23;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.886;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.535;MutationAssessor_rankscore=0.739;MutationAssessor_pred=M;FATHMM_score=3.3;FATHMM_converted_rankscore=0.064;FATHMM_pred=T;PROVEAN_score=-5.74;PROVEAN_converted_rankscore=0.877;PROVEAN_pred=D;VEST4_score=0.829;VEST4_rankscore=0.825;MetaSVM_score=-1.229;MetaSVM_rankscore=0.000;MetaSVM_pred=T;MetaLR_score=0.058;MetaLR_rankscore=0.244;MetaLR_pred=T;MetaRNN_score=0.714;MetaRNN_rankscore=0.732;MetaRNN_pred=D;M-CAP_score=0.014;M-CAP_rankscore=0.337;M-CAP_pred=T;REVEL_score=0.446;REVEL_rankscore=0.751;MutPred_score=0.474;MutPred_rankscore=0.550;MVP_score=0.488;MVP_rankscore=0.485;MPC_score=1.161;MPC_rankscore=0.795;PrimateAI_score=0.810;PrimateAI_rankscore=0.834;PrimateAI_pred=D;DEOGEN2_score=0.639;DEOGEN2_rankscore=0.889;DEOGEN2_pred=D;BayesDel_addAF_score=0.173;BayesDel_addAF_rankscore=0.714;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.010;BayesDel_noAF_rankscore=0.710;BayesDel_noAF_pred=D;ClinPred_score=0.994;ClinPred_rankscore=0.845;ClinPred_pred=D;LIST-S2_score=0.983;LIST-S2_rankscore=0.968;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=4.678;CADD_raw_rankscore=0.923;CADD_phred=32;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.991;fathmm-MKL_coding_rankscore=0.907;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.917;fathmm-XF_coding_rankscore=0.885;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.837;Eigen-raw_coding_rankscore=0.883;Eigen-PC-raw_coding=0.835;Eigen-PC-raw_coding_rankscore=0.921;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.8;GERP++_RS=5.8;GERP++_RS_rankscore=0.921;phyloP100way_vertebrate=7.700;phyloP100way_vertebrate_rankscore=0.835;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=15.458;SiPhy_29way_logOdds_rankscore=0.751;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:55,0:0.029:55:16,0:14,0:32,0:25,30,0,0	0/1:58,26:0.306:84:15,6:15,7:33,14:26,32,13,13
chr1	8656049	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,62|13,15;DP=161;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,166;MMQ=60,60;MPOS=32;NALOD=1.66;NLOD=13.08;POPAF=6;RPA=8,7;RU=T;STR;STRQ=22;TLOD=20.91;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RERE;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=RERE:NM_001042681:exon2:c.248delA:p.K83Sfs*12,RERE:NM_012102:exon3:c.248delA:p.K83Sfs*12;cytoBand=1p36.23;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:66,0:0.022:66:17,0:21,0:44,0:35,31,0,0	0/1:60,28:0.319:88:17,9:14,5:33,15:29,31,13,15
chr1	8751028	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,27|1,2;DP=47;ECNT=1;GERMQ=85;MBQ=20,20;MFRL=218,135;MMQ=60,60;MPOS=37;NALOD=1.39;NLOD=6.92;POPAF=6;TLOD=6.31;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RERE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.23;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.039:31:12,0:9,0:23,0:11,20,0,0	0/1:11,3:0.25:14:3,0:5,1:8,2:4,7,1,2
chr1	9007435	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,48|14,16;DP=137;ECNT=1;GERMQ=62;MBQ=20,20;MFRL=160,146;MMQ=60,60;MPOS=36;NALOD=0.605;NLOD=6.9;POPAF=3.71;RPA=7,6;RU=G;STR;STRQ=93;TLOD=23.18;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SLC2A7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.23;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0002;AF_female=9.492e-05;AF_afr=9.531e-05;AF_ami=0;AF_amr=7.328e-05;AF_asj=0;AF_eas=0;AF_fin=0.0010;AF_nfe=6.201e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs754009377;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0004;ExAC_FIN=0.0010;ExAC_NFE=3.622e-05;ExAC_OTH=0;ExAC_SAS=6.822e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:45,2:0.057:47:14,1:8,0:30,1:21,24,1,1	0/1:45,28:0.378:73:13,9:8,5:25,15:21,24,13,15
chr1	9263602	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=59,59|15,13;DP=146;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,152;MMQ=60,60;MPOS=46;NALOD=1.52;NLOD=9.63;POPAF=3.91;TLOD=60.3;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=H6PD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=H6PD:NM_001282587:exon5:c.G1142A:p.R381Q,H6PD:NM_004285:exon5:c.G1109A:p.R370Q;cytoBand=1p36.22;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;SIFT4G_score=0.011;SIFT4G_converted_rankscore=0.657;SIFT4G_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_rankscore=0.688;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.914;Polyphen2_HVAR_rankscore=0.650;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.77;MutationAssessor_rankscore=0.952;MutationAssessor_pred=H;FATHMM_score=-6.97;FATHMM_converted_rankscore=0.998;FATHMM_pred=D;PROVEAN_score=-2.91;PROVEAN_converted_rankscore=0.610;PROVEAN_pred=D;VEST4_score=0.706;VEST4_rankscore=0.734;MetaSVM_score=0.951;MetaSVM_rankscore=0.964;MetaSVM_pred=D;MetaLR_score=0.994;MetaLR_rankscore=0.999;MetaLR_pred=D;MetaRNN_score=0.898;MetaRNN_rankscore=0.891;MetaRNN_pred=D;M-CAP_score=0.479;M-CAP_rankscore=0.948;M-CAP_pred=D;REVEL_score=0.871;REVEL_rankscore=0.962;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.986;MVP_rankscore=0.986;MPC_score=0.530;MPC_rankscore=0.505;PrimateAI_score=0.431;PrimateAI_rankscore=0.294;PrimateAI_pred=T;DEOGEN2_score=0.938;DEOGEN2_rankscore=0.990;DEOGEN2_pred=D;BayesDel_addAF_score=0.330;BayesDel_addAF_rankscore=0.851;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.528;BayesDel_noAF_rankscore=0.951;BayesDel_noAF_pred=D;ClinPred_score=0.814;ClinPred_rankscore=0.473;ClinPred_pred=D;LIST-S2_score=0.957;LIST-S2_rankscore=0.839;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.011;CADD_raw_rankscore=0.790;CADD_phred=27.1;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.897;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.849;fathmm-XF_coding_rankscore=0.766;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.896;Eigen-raw_coding_rankscore=0.916;Eigen-PC-raw_coding=0.779;Eigen-PC-raw_coding_rankscore=0.883;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.56;GERP++_RS=5.56;GERP++_RS_rankscore=0.837;phyloP100way_vertebrate=9.479;phyloP100way_vertebrate_rankscore=0.969;phyloP30way_mammalian=1.164;phyloP30way_mammalian_rankscore=0.718;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.428;phastCons30way_mammalian_rankscore=0.261;SiPhy_29way_logOdds=18.515;SiPhy_29way_logOdds_rankscore=0.909;Interpro_domain=Glucose-6-phosphate_dehydrogenase,_C-terminal\x3bGlucose-6-phosphate_dehydrogenase,_C-terminal;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=8.372e-05;AF_raw=8.369e-05;AF_male=8.638e-05;AF_female=8.122e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=9.29e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs182877860;ExAC_ALL=5.77e-05;ExAC_AFR=0;ExAC_AMR=8.642e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=4.499e-05;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:51,0:0.029:51:11,0:20,0:32,0:25,26,0,0	0/1:67,28:0.31:95:10,6:24,10:37,16:34,33,15,13
chr1	9598353	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,1|0,0;DP=11;ECNT=2;GERMQ=32;MBQ=37,20;MFRL=231,169;MMQ=60,60;MPOS=21;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=8.7;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM201;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:9,0:0.1:9:5,0:2,0:8,0:0|1:9598353_A_G:9598353:8,1,0,0	0|1:0,2:0.667:2:0,1:0,0:0,1:0|1:9598353_A_G:9598353:0,0,1,1
chr1	9598358	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,1|0,0;DP=12;ECNT=2;GERMQ=35;MBQ=38,20;MFRL=213,169;MMQ=60,60;MPOS=26;NALOD=1;NLOD=2.71;POPAF=6;TLOD=8.7;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM201;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:10,0:0.091:10:6,0:3,0:9,0:0|1:9598353_A_G:9598353:9,1,0,0	0|1:0,2:0.667:2:0,1:0,0:0,1:0|1:9598353_A_G:9598353:0,0,1,1
chr1	9607659	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=104,108|4,4;DP=227;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=159,210;MMQ=60,60;MPOS=38;NALOD=1.74;NLOD=15.95;POPAF=6;TLOD=11.69;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TMEM201;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMEM201:NM_001130924:exon7:c.C1263T:p.S421S;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:87,0:0.018:87:27,0:26,0:53,0:41,46,0,0	0/1:125,8:0.067:133:31,3:37,1:69,4:63,62,4,4
chr1	10279066	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,44|2,2;DP=101;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=147,116;MMQ=60,60;MPOS=35;NALOD=1.43;NLOD=7.83;POPAF=6;TLOD=5.46;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIF1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.036:41:10,0:14,0:26,0:23,18,0,0	0/1:53,4:0.093:57:16,0:11,2:28,2:27,26,2,2
chr1	10337063	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,27|11,9;DP=82;ECNT=1;GERMQ=67;MBQ=20,20;MFRL=170,169;MMQ=60,60;MPOS=40;NALOD=1.23;NLOD=4.78;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=18.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIF1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:25,0:0.056:25:5,0:11,0:16,0:16,9,0,0	0/1:37,20:0.363:57:6,6:13,5:20,11:19,18,11,9
chr1	10348779	.	ATT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,17|12,17;DP=68;ECNT=1;GERMQ=32;MBQ=20,20;MFRL=170,160;MMQ=60,60;MPOS=30;NALOD=0.72;NLOD=4.21;POPAF=2.49;RPA=14,12;RU=T;STR;STRQ=93;TLOD=28.18;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIF1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.457e-05;AF_raw=0.0004;AF_male=1.512e-05;AF_female=1.407e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=0;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs796144701;ExAC_ALL=0.0019;ExAC_AFR=0.0012;ExAC_AMR=0.0027;ExAC_EAS=0.0034;ExAC_FIN=0.0025;ExAC_NFE=0.0023;ExAC_OTH=0;ExAC_SAS=0.0007;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.056:21:5,0:5,0:14,0:7,14,0,0	0/1:6,29:0.806:35:2,4:2,6:4,18:3,3,12,17
chr1	10643144	.	T	TG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,14|11,8;DP=68;ECNT=2;GERMQ=23;MBQ=27,20;MFRL=195,178;MMQ=60,60;MPOS=23;NALOD=0.984;NLOD=5.03;POPAF=3.6;RPA=8,9;RU=G;STR;STRQ=20;TLOD=16.83;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CASZ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0002;AF_afr=0.0004;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=9.63e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs757239011;ExAC_ALL=0.0005;ExAC_AFR=0.0014;ExAC_AMR=0;ExAC_EAS=0.0005;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0007;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.052:21:4,0:9,0:17,0:13,8,0,0	0/1:23,19:0.393:42:9,9:9,2:18,11:17,6,11,8
chr1	10643165	.	AG	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,24|17,16;DP=103;ECNT=2;GERMQ=70;MBQ=20,20;MFRL=162,170;MMQ=60,60;MPOS=31;NALOD=1.39;NLOD=6.84;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=30.95;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CASZ1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CASZ1:NM_001079843:exon19:c.4014delC:p.S1339Pfs*7;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.039:33:5,0:12,0:23,0:19,14,0,0	0/1:32,33:0.431:65:11,12:11,5:23,17:22,10,17,16
chr1	10655860	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,23|2,3;DP=37;ECNT=1;GERMQ=43;MBQ=20,35;MFRL=194,149;MMQ=60,60;MPOS=47;NALOD=1.15;NLOD=3.9;POPAF=4.61;TLOD=12.83;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CASZ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=9.54e-05;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs774784536;ExAC_ALL=8.39e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.518e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.067:16:5,0:7,0:13,0:4,12,0,0	0/1:16,5:0.294:21:3,2:6,2:11,4:5,11,2,3
chr1	11122204	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,11|1,7;DP=27;ECNT=1;GERMQ=25;MBQ=20,34;MFRL=170,206;MMQ=60,60;MPOS=25;NALOD=1.09;NLOD=3.27;POPAF=3.53;RPA=10,9;RU=T;STR;STRQ=26;TLOD=16.59;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MTOR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.963e-05;AF_raw=7.719e-05;AF_male=4.393e-05;AF_female=5.498e-05;AF_afr=2.407e-05;AF_ami=0;AF_amr=7.436e-05;AF_asj=0;AF_eas=0;AF_fin=0.0003;AF_nfe=1.571e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.075:16:1,0:8,0:11,0:5,11,0,0	0/1:0,8:0.888:8:0,1:0,1:0,7:0,0,1,7
chr1	11144772	COSV63869209	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,53|15,16;DP=138;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=181,161;MMQ=60,60;MPOS=27;NALOD=1.58;NLOD=11.13;POPAF=6;TLOD=70.03;AA=p.?;CDS=c.4765-17C>T;CNT=1;GENE=MTOR;HGVSC=ENST00000361445.8:c.4765-17C>T;HGVSG=1:g.11144772G>A;LEGACY_ID=COSN23013841;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_exonic;Gene.refGene=MTOR-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.98e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs758717786;ExAC_ALL=8.305e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.093e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.026:60:19,0:16,0:37,0:30,30,0,0	0/1:45,31:0.413:76:12,7:12,9:26,18:22,23,15,16
chr1	11536334	COSV53839869	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,37|7,6;DP=103;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,186;MMQ=60,60;MPOS=39;NALOD=1.47;NLOD=8.43;POPAF=6;TLOD=28.55;AA=p.N162%3D,p.T1276M;CDS=c.486C>T,c.3827C>T;CNT=1,1;GENE=DISP3_ENST00000304391,DISP3;HGVSC=ENST00000304391.6:c.486C>T,ENST00000294484.6:c.3827C>T;HGVSG=1:g.11536334C>T,1:g.11536334C>T;HGVSP=ENSP00000303400.6:p.Asn162%3D,ENSP00000294484.6:p.Thr1276Met;LEGACY_ID=COSM5477507,COSM5477507;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DISP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DISP3:NM_020780:exon21:c.C3827T:p.T1276M;cytoBand=1p36.22;SIFT_score=0.058;SIFT_converted_rankscore=0.378;SIFT_pred=T;SIFT4G_score=0.055;SIFT4G_converted_rankscore=0.469;SIFT4G_pred=T;Polyphen2_HDIV_score=0.088;Polyphen2_HDIV_rankscore=0.250;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.173;Polyphen2_HVAR_pred=B;LRT_score=0.041;LRT_converted_rankscore=0.240;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.84;FATHMM_converted_rankscore=0.913;FATHMM_pred=D;PROVEAN_score=-1.49;PROVEAN_converted_rankscore=0.364;PROVEAN_pred=N;VEST4_score=0.059;VEST4_rankscore=0.031;MetaSVM_score=-0.335;MetaSVM_rankscore=0.740;MetaSVM_pred=T;MetaLR_score=0.543;MetaLR_rankscore=0.832;MetaLR_pred=D;MetaRNN_score=0.116;MetaRNN_rankscore=0.218;MetaRNN_pred=T;M-CAP_score=0.041;M-CAP_rankscore=0.596;M-CAP_pred=D;REVEL_score=0.185;REVEL_rankscore=0.464;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.567;MVP_rankscore=0.563;MPC_score=0.687;MPC_rankscore=0.604;PrimateAI_score=0.376;PrimateAI_rankscore=0.217;PrimateAI_pred=T;DEOGEN2_score=0.012;DEOGEN2_rankscore=0.104;DEOGEN2_pred=T;BayesDel_addAF_score=-0.171;BayesDel_addAF_rankscore=0.250;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.311;BayesDel_noAF_rankscore=0.435;BayesDel_noAF_pred=T;ClinPred_score=0.266;ClinPred_rankscore=0.236;ClinPred_pred=T;LIST-S2_score=0.822;LIST-S2_rankscore=0.481;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=2.029;CADD_raw_rankscore=0.312;CADD_phred=19.47;DANN_score=0.990;DANN_rankscore=0.501;fathmm-MKL_coding_score=0.555;fathmm-MKL_coding_rankscore=0.299;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.143;fathmm-XF_coding_rankscore=0.266;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.548;Eigen-raw_coding_rankscore=0.205;Eigen-PC-raw_coding=-0.509;Eigen-PC-raw_coding_rankscore=0.219;GenoCanyon_score=0.973;GenoCanyon_rankscore=0.294;integrated_fitCons_score=0.646;integrated_fitCons_rankscore=0.454;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.89;GERP++_RS=4.89;GERP++_RS_rankscore=0.634;phyloP100way_vertebrate=3.343;phyloP100way_vertebrate_rankscore=0.519;phyloP30way_mammalian=1.007;phyloP30way_mammalian_rankscore=0.374;phastCons100way_vertebrate=0.047;phastCons100way_vertebrate_rankscore=0.213;phastCons30way_mammalian=0.105;phastCons30way_mammalian_rankscore=0.196;SiPhy_29way_logOdds=17.079;SiPhy_29way_logOdds_rankscore=0.865;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs769502435;ExAC_ALL=8.854e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.033:47:12,0:16,0:28,0:27,20,0,0	0/1:40,13:0.272:53:12,4:11,4:23,8:23,17,7,6
chr1	11736248	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=94,87|3,7;DP=199;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,179;MMQ=60,60;MPOS=34;NALOD=1.67;NLOD=13.5;POPAF=4.61;RPA=6,5;RU=G;STR;STRQ=93;TLOD=8.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=AGTRAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.021:73:18,0:19,0:45,0:37,36,0,0	0/1:108,10:0.108:118:24,1:33,2:59,7:57,51,3,7
chr1	11784367	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,59|2,2;DP=119;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,136;MMQ=60,60;MPOS=47;NALOD=1.52;NLOD=9.64;POPAF=1.59;TLOD=5.36;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=C1orf167;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=C1orf167:NM_001010881:exon15:c.G3199A:p.G1067R;cytoBand=1p36.22;SIFT_score=0.158;SIFT_converted_rankscore=0.239;SIFT_pred=T;SIFT4G_score=0.176;SIFT4G_converted_rankscore=0.298;SIFT4G_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_rankscore=0.611;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.341;Polyphen2_HVAR_rankscore=0.424;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.69;MutationAssessor_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=3.41;FATHMM_converted_rankscore=0.056;FATHMM_pred=T;PROVEAN_score=-0.85;PROVEAN_converted_rankscore=0.232;PROVEAN_pred=N;VEST4_score=0.089;VEST4_rankscore=0.067;MetaSVM_score=-1.027;MetaSVM_rankscore=0.215;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_rankscore=0.002;MetaLR_pred=T;MetaRNN_score=0.002;MetaRNN_rankscore=0.000;MetaRNN_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.120;REVEL_rankscore=0.338;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.122;MVP_rankscore=0.117;MPC_score=1.186;MPC_rankscore=0.801;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.008;DEOGEN2_rankscore=0.078;DEOGEN2_pred=T;BayesDel_addAF_score=-0.600;BayesDel_addAF_rankscore=0.001;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.548;BayesDel_noAF_rankscore=0.175;BayesDel_noAF_pred=T;ClinPred_score=0.009;ClinPred_rankscore=0.001;ClinPred_pred=T;LIST-S2_score=0.343;LIST-S2_rankscore=0.075;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=0.274;CADD_raw_rankscore=0.067;CADD_phred=3.984;DANN_score=0.967;DANN_rankscore=0.309;fathmm-MKL_coding_score=0.032;fathmm-MKL_coding_rankscore=0.082;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.059;fathmm-XF_coding_rankscore=0.112;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.842;Eigen-raw_coding_rankscore=0.123;Eigen-PC-raw_coding=-0.945;Eigen-PC-raw_coding_rankscore=0.110;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.490;integrated_fitCons_score=0.560;integrated_fitCons_rankscore=0.307;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.8;GERP++_RS=1.88;GERP++_RS_rankscore=0.246;phyloP100way_vertebrate=0.098;phyloP100way_vertebrate_rankscore=0.150;phyloP30way_mammalian=-1.237;phyloP30way_mammalian_rankscore=0.018;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=5.162;SiPhy_29way_logOdds_rankscore=0.144;Interpro_domain=.;GTEx_V8_gene=MTHFR|MTHFR|CLCN6|MTHFR|MTHFR|MTHFR|MTHFR|MTHFR|MTHFR;GTEx_V8_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Esophagus_Muscularis|Lung|Nerve_Tibial|Thyroid|Whole_Blood;AF=0.0335;AF_raw=0.0335;AF_male=0.0327;AF_female=0.0343;AF_afr=0.1069;AF_ami=0;AF_amr=0.0106;AF_asj=0.0154;AF_eas=0.0010;AF_fin=0;AF_nfe=0.0008;AF_oth=0.0242;AF_sas=0.0010;ALL.sites.2015_08=0.0311502;AFR.sites.2015_08=0.1097;ALL.sites.2015_08=0.0311502;EUR.sites.2015_08=0.002;AMR.sites.2015_08=0.0043;EUR.sites.2015_08=0.002;EAS.sites.2015_08=0.004;SAS.sites.2015_08=0.002;avsnp150=rs7523653;ExAC_ALL=0.0098;ExAC_AFR=0.1317;ExAC_AMR=0.0088;ExAC_EAS=0.0023;ExAC_FIN=0;ExAC_NFE=0.0066;ExAC_OTH=0;ExAC_SAS=0.0004;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.029:50:14,0:13,0:32,0:23,27,0,0	0/1:60,4:0.075:64:15,0:19,2:36,2:28,32,2,2
chr1	11815963	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,31|8,8;DP=76;ECNT=1;GERMQ=36;MBQ=20,20;MFRL=186,156;MMQ=60,60;MPOS=51;NALOD=1.26;NLOD=4.79;POPAF=3.19;RPA=8,7;RU=T;STR;STRQ=4;TLOD=11.12;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CLCN6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0010;AF_raw=0.0010;AF_male=0.0011;AF_female=0.0009;AF_afr=0.0032;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0.0014;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs760789797;ExAC_ALL=0.0004;ExAC_AFR=0.0035;ExAC_AMR=0.0002;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=3.122e-05;ExAC_OTH=0.0011;ExAC_SAS=6.209e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.052:23:3,0:6,0:16,0:7,16,0,0	0/1:29,16:0.358:45:7,3:7,5:15,8:14,15,8,8
chr1	11826210	COSV56742080	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,36|11,13;DP=101;ECNT=1;GERMQ=82;MBQ=20,20;MFRL=164,135;MMQ=60,60;MPOS=26;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=52.21;AA=p.D235N,p.D235N,p.D213N;CDS=c.703G>A,c.703G>A,c.637G>A;CNT=1,1,1;GENE=CLCN6_ENST00000376496,CLCN6,CLCN6_ENST00000312413;HGVSC=ENST00000376496.4:c.703G>A,ENST00000346436.10:c.703G>A,ENST00000312413.10:c.637G>A;HGVSG=1:g.11826210G>A,1:g.11826210G>A,1:g.11826210G>A;HGVSP=ENSP00000365679.3:p.Asp235Asn,ENSP00000234488.9:p.Asp235Asn,ENSP00000308367.7:p.Asp213Asn;LEGACY_ID=COSM167369,COSM167369,COSM167369;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CLCN6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CLCN6:NM_001256959:exon8:c.G637A:p.D213N,CLCN6:NM_001286:exon9:c.G703A:p.D235N;cytoBand=1p36.22;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.007;SIFT4G_converted_rankscore=0.722;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.863;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.805;MutationAssessor_rankscore=0.475;MutationAssessor_pred=L;FATHMM_score=-3.5;FATHMM_converted_rankscore=0.947;FATHMM_pred=D;PROVEAN_score=-4.7;PROVEAN_converted_rankscore=0.805;PROVEAN_pred=D;VEST4_score=0.821;VEST4_rankscore=0.817;MetaSVM_score=0.986;MetaSVM_rankscore=0.970;MetaSVM_pred=D;MetaLR_score=0.900;MetaLR_rankscore=0.967;MetaLR_pred=D;MetaRNN_score=0.898;MetaRNN_rankscore=0.892;MetaRNN_pred=D;M-CAP_score=0.588;M-CAP_rankscore=0.963;M-CAP_pred=D;REVEL_score=0.721;REVEL_rankscore=0.903;MutPred_score=0.39;MutPred_rankscore=0.413;MVP_score=0.959;MVP_rankscore=0.958;MPC_score=1.081;MPC_rankscore=0.771;PrimateAI_score=0.853;PrimateAI_rankscore=0.901;PrimateAI_pred=D;DEOGEN2_score=0.899;DEOGEN2_rankscore=0.980;DEOGEN2_pred=D;BayesDel_addAF_score=0.149;BayesDel_addAF_rankscore=0.691;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.024;BayesDel_noAF_rankscore=0.687;BayesDel_noAF_pred=D;ClinPred_score=0.999;ClinPred_rankscore=0.952;ClinPred_pred=D;LIST-S2_score=0.965;LIST-S2_rankscore=0.920;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=4.484;CADD_raw_rankscore=0.911;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.997;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.890;fathmm-XF_coding_rankscore=0.824;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.913;Eigen-raw_coding_rankscore=0.924;Eigen-PC-raw_coding=0.908;Eigen-PC-raw_coding_rankscore=0.959;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.76;GERP++_RS=5.76;GERP++_RS_rankscore=0.907;phyloP100way_vertebrate=9.412;phyloP100way_vertebrate_rankscore=0.967;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.995;phastCons30way_mammalian_rankscore=0.577;SiPhy_29way_logOdds=18.964;SiPhy_29way_logOdds_rankscore=0.927;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.038:37:10,0:10,0:24,0:20,17,0,0	0/1:35,24:0.412:59:8,6:11,6:19,13:16,19,11,13
chr1	12207104	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=3,10|2,4;DP=28;ECNT=1;GERMQ=31;MBQ=34,20;MFRL=239,173;MMQ=60,60;MPOS=37;NALOD=0.974;NLOD=2.4;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=8.12;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=TNFRSF1B;GeneDetail.refGene=NM_001066:c.*85delC;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:10,0:0.097:10:3,0:2,0:8,0:2,8,0,0	0/1:3,6:0.63:9:1,1:0,2:2,4:1,2,2,4
chr1	12288262	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=81,83|2,2;DP=168;ECNT=1;GERMQ=93;MBQ=20,26;MFRL=154,112;MMQ=60,60;MPOS=25;NALOD=1.59;NLOD=11.44;POPAF=6;TLOD=7.19;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=VPS13D;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=VPS13D:NM_015378:exon22:c.G5674A:p.E1892K,VPS13D:NM_018156:exon22:c.G5674A:p.E1892K;cytoBand=1p36.22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.732;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.985;Polyphen2_HVAR_rankscore=0.821;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.76;MutationAssessor_rankscore=0.806;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.918;VEST4_rankscore=0.921;MetaSVM_score=-0.768;MetaSVM_rankscore=0.570;MetaSVM_pred=T;MetaLR_score=0.288;MetaLR_rankscore=0.660;MetaLR_pred=T;MetaRNN_score=0.712;MetaRNN_rankscore=0.731;MetaRNN_pred=D;M-CAP_score=0.011;M-CAP_rankscore=0.290;M-CAP_pred=T;REVEL_score=0.377;REVEL_rankscore=0.698;MutPred_score=0.314;MutPred_rankscore=0.289;MVP_score=0.082;MVP_rankscore=0.077;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.731;PrimateAI_rankscore=0.716;PrimateAI_pred=T;DEOGEN2_score=0.564;DEOGEN2_rankscore=0.854;DEOGEN2_pred=D;BayesDel_addAF_score=0.406;BayesDel_addAF_rankscore=0.902;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.345;BayesDel_noAF_rankscore=0.901;BayesDel_noAF_pred=D;ClinPred_score=0.975;ClinPred_rankscore=0.709;ClinPred_pred=D;LIST-S2_score=0.953;LIST-S2_rankscore=0.820;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.320;CADD_raw_rankscore=0.887;CADD_phred=29.7;DANN_score=0.999;DANN_rankscore=0.997;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.765;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.857;fathmm-XF_coding_rankscore=0.774;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.798;Eigen-raw_coding_rankscore=0.860;Eigen-PC-raw_coding=0.820;Eigen-PC-raw_coding_rankscore=0.912;GenoCanyon_score=1.0;GenoCanyon_rankscore=0.983;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=6.07;GERP++_RS=6.07;GERP++_RS_rankscore=0.987;phyloP100way_vertebrate=9.449;phyloP100way_vertebrate_rankscore=0.968;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=20.644;SiPhy_29way_logOdds_rankscore=0.996;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.025:62:17,0:20,0:38,0:31,31,0,0	0/1:102,4:0.05:106:26,1:28,1:56,2:50,52,2,2
chr1	12746489	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,49|14,12;DP=126;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=154,154;MMQ=60,60;MPOS=41;NALOD=1.08;NLOD=6.62;POPAF=6;TLOD=48.53;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=C1orf158;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=C1orf158:NM_001330361:exon1:c.C59A:p.T20N,C1orf158:NM_152290:exon1:c.C59A:p.T20N;cytoBand=1p36.21;SIFT_score=0.294;SIFT_converted_rankscore=0.148;SIFT_pred=T;SIFT4G_score=0.134;SIFT4G_converted_rankscore=0.342;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.631;LRT_converted_rankscore=0.107;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.97;FATHMM_converted_rankscore=0.425;FATHMM_pred=T;PROVEAN_score=-0.21;PROVEAN_converted_rankscore=0.103;PROVEAN_pred=N;VEST4_score=0.159;VEST4_rankscore=0.319;MetaSVM_score=-1.063;MetaSVM_rankscore=0.111;MetaSVM_pred=T;MetaLR_score=0.090;MetaLR_rankscore=0.345;MetaLR_pred=T;MetaRNN_score=0.071;MetaRNN_rankscore=0.105;MetaRNN_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.119;M-CAP_pred=T;REVEL_score=0.099;REVEL_rankscore=0.289;MutPred_score=0.212;MutPred_rankscore=0.131;MVP_score=0.118;MVP_rankscore=0.114;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.022;DEOGEN2_rankscore=0.172;DEOGEN2_pred=T;BayesDel_addAF_score=-0.415;BayesDel_addAF_rankscore=0.018;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.737;BayesDel_noAF_rankscore=0.040;BayesDel_noAF_pred=T;ClinPred_score=0.090;ClinPred_rankscore=0.112;ClinPred_pred=T;LIST-S2_score=0.658;LIST-S2_rankscore=0.267;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=0.658;CADD_raw_rankscore=0.109;CADD_phred=8.067;DANN_score=0.714;DANN_rankscore=0.096;fathmm-MKL_coding_score=0.092;fathmm-MKL_coding_rankscore=0.150;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.049;fathmm-XF_coding_rankscore=0.085;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.846;Eigen-raw_coding_rankscore=0.121;Eigen-PC-raw_coding=-0.909;Eigen-PC-raw_coding_rankscore=0.119;GenoCanyon_score=0.014;GenoCanyon_rankscore=0.126;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=6.17;GERP++_RS=-0.55;GERP++_RS_rankscore=0.112;phyloP100way_vertebrate=0.487;phyloP100way_vertebrate_rankscore=0.221;phyloP30way_mammalian=-0.909;phyloP30way_mammalian_rankscore=0.028;phastCons100way_vertebrate=0.550;phastCons100way_vertebrate_rankscore=0.273;phastCons30way_mammalian=0.012;phastCons30way_mammalian_rankscore=0.124;SiPhy_29way_logOdds=12.392;SiPhy_29way_logOdds_rankscore=0.547;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs749811245;ExAC_ALL=8.238e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.057e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.042:38:11,0:8,0:22,0:18,20,0,0	0/1:58,26:0.338:84:10,5:19,9:31,15:29,29,14,12
chr1	12793507	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,29|1,1;DP=57;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=206,139;MMQ=40,44;MPOS=9;NALOD=1.39;NLOD=6.92;POPAF=6;TLOD=5.18;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PRAMEF1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PRAMEF1:NM_023013:exon2:c.281delG:p.R94Pfs*54;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:27,0:0.039:27:7,0:8,0:23,0:0|1:12793507_CG_C:12793507:11,16,0,0	0|1:23,2:0.116:25:6,1:4,0:14,1:0|1:12793507_CG_C:12793507:10,13,1,1
chr1	12793509	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,29|1,1;DP=57;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=206,139;MMQ=40,44;MPOS=8;NALOD=1.39;NLOD=6.92;POPAF=6;TLOD=5.19;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PRAMEF1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRAMEF1:NM_023013:exon2:c.C282A:p.R94R;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:27,0:0.039:27:6,0:9,0:23,0:0|1:12793507_CG_C:12793507:11,16,0,0	0|1:23,2:0.118:25:6,1:4,0:14,1:0|1:12793507_CG_C:12793507:10,13,1,1
chr1	13318743	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,58|2,2;DP=96;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=177,157;MMQ=43,42;MPOS=22;NALOD=1.43;NLOD=7.83;POPAF=6;TLOD=5.37;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PRAMEF15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.036:34:11,0:10,0:26,0:8,26,0,0	0/1:56,4:0.083:60:11,2:18,0:32,2:24,32,2,2
chr1	13368958	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,1|2,1;DP=16;ECNT=1;GERMQ=35;MBQ=34,20;MFRL=233,139;MMQ=60,60;MPOS=26;NALOD=1;NLOD=2.71;POPAF=6;TLOD=7.29;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=PRAMEF19;GeneDetail.refGene=NM_001099790:c.*109A>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:9,0:0.091:9:4,0:5,0:9,0:9,0,0,0	0/1:4,3:0.429:7:1,1:2,1:3,2:3,1,2,1
chr1	13421244	COSV105882242	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,45|8,6;DP=90;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,182;MMQ=60,60;MPOS=41;NALOD=1.41;NLOD=7.22;POPAF=6;TLOD=27.58;AA=p.R472W,p.R472W;CDS=c.1414C>T,c.1414C>T;CNT=1,1;GENE=PRAMEF20,PRAMEF20_ENST00000602960;HGVSC=ENST00000316412.9:c.1414C>T,ENST00000602960.1:c.1414C>T;HGVSG=1:g.13421244C>T,1:g.13421244C>T;HGVSP=ENSP00000346275.2:p.Arg472Trp,ENSP00000473584.1:p.Arg472Trp;LEGACY_ID=COSM9979436,COSM9979436;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PRAMEF20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRAMEF20:NM_001099852:exon4:c.C1414T:p.R472W;cytoBand=1p36.21;SIFT_score=0.101;SIFT_converted_rankscore=0.304;SIFT_pred=T;SIFT4G_score=0.141;SIFT4G_converted_rankscore=0.334;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=5.02;FATHMM_converted_rankscore=0.013;FATHMM_pred=T;PROVEAN_score=-1.38;PROVEAN_converted_rankscore=0.342;PROVEAN_pred=N;VEST4_score=0.094;VEST4_rankscore=0.074;MetaSVM_score=-0.949;MetaSVM_rankscore=0.411;MetaSVM_pred=T;MetaLR_score=0.004;MetaLR_rankscore=0.012;MetaLR_pred=T;MetaRNN_score=0.132;MetaRNN_rankscore=0.251;MetaRNN_pred=T;M-CAP_score=7.37E-4;M-CAP_rankscore=0.005;M-CAP_pred=T;REVEL_score=0.075;REVEL_rankscore=0.223;MutPred_score=0.537;MutPred_rankscore=0.647;MVP_score=0.175;MVP_rankscore=0.171;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.252;PrimateAI_rankscore=0.040;PrimateAI_pred=T;DEOGEN2_score=0.016;DEOGEN2_rankscore=0.133;DEOGEN2_pred=T;BayesDel_addAF_score=-0.379;BayesDel_addAF_rankscore=0.032;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.782;BayesDel_noAF_rankscore=0.024;BayesDel_noAF_pred=T;ClinPred_score=0.730;ClinPred_rankscore=0.422;ClinPred_pred=D;LIST-S2_score=0.646;LIST-S2_rankscore=0.258;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=0.841;CADD_raw_rankscore=0.131;CADD_phred=9.809;DANN_score=0.972;DANN_rankscore=0.327;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_rankscore=0.024;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.051;fathmm-XF_coding_rankscore=0.090;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.150;Eigen-raw_coding_rankscore=0.058;Eigen-PC-raw_coding=-1.340;Eigen-PC-raw_coding_rankscore=0.039;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.046;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=1.68;GERP++_RS=-1.92;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=-2.055;phyloP100way_vertebrate_rankscore=0.015;phyloP30way_mammalian=-0.212;phyloP30way_mammalian_rankscore=0.095;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=0.704;SiPhy_29way_logOdds_rankscore=0.009;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=5.589e-05;AF_raw=5.581e-05;AF_male=4.326e-05;AF_female=6.776e-05;AF_afr=7.147e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=9.577e-05;AF_nfe=6.196e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs980849283;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.038:35:10,0:12,0:24,0:13,22,0,0	0/1:40,14:0.273:54:14,4:4,4:23,8:17,23,8,6
chr1	13781796	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=66,73|13,16;DP=170;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,177;MMQ=60,60;MPOS=34;NALOD=1.65;NLOD=12.94;POPAF=6;TLOD=60.96;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PRDM2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM2:NM_001007257:exon3:c.G3398A:p.R1133H,PRDM2:NM_012231:exon8:c.G4001A:p.R1334H,PRDM2:NM_015866:exon8:c.G4001A:p.R1334H;cytoBand=1p36.21;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.005;SIFT4G_converted_rankscore=0.722;SIFT4G_pred=D;Polyphen2_HDIV_score=0.901;Polyphen2_HDIV_rankscore=0.497;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.147;Polyphen2_HVAR_rankscore=0.382;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_rankscore=0.262;MutationAssessor_pred=L;FATHMM_score=3.79;FATHMM_converted_rankscore=0.038;FATHMM_pred=T;PROVEAN_score=-2.43;PROVEAN_converted_rankscore=0.608;PROVEAN_pred=N;VEST4_score=0.697;VEST4_rankscore=0.702;MetaSVM_score=-1.003;MetaSVM_rankscore=0.290;MetaSVM_pred=T;MetaLR_score=0.026;MetaLR_rankscore=0.111;MetaLR_pred=T;MetaRNN_score=0.655;MetaRNN_rankscore=0.698;MetaRNN_pred=D;M-CAP_score=0.020;M-CAP_rankscore=0.431;M-CAP_pred=T;REVEL_score=0.209;REVEL_rankscore=0.503;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.512;MVP_rankscore=0.509;MPC_score=0.235;MPC_rankscore=0.260;PrimateAI_score=0.869;PrimateAI_rankscore=0.925;PrimateAI_pred=D;DEOGEN2_score=0.183;DEOGEN2_rankscore=0.536;DEOGEN2_pred=T;BayesDel_addAF_score=-0.105;BayesDel_addAF_rankscore=0.356;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.389;BayesDel_noAF_rankscore=0.347;BayesDel_noAF_pred=T;ClinPred_score=0.952;ClinPred_rankscore=0.636;ClinPred_pred=D;LIST-S2_score=0.967;LIST-S2_rankscore=0.880;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.623;CADD_raw_rankscore=0.673;CADD_phred=25.1;DANN_score=0.999;DANN_rankscore=0.990;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.535;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.869;fathmm-XF_coding_rankscore=0.789;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.410;Eigen-raw_coding_rankscore=0.620;Eigen-PC-raw_coding=0.519;Eigen-PC-raw_coding_rankscore=0.693;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.722;integrated_fitCons_rankscore=0.854;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=6.17;GERP++_RS=5.26;GERP++_RS_rankscore=0.735;phyloP100way_vertebrate=8.002;phyloP100way_vertebrate_rankscore=0.880;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=14.519;SiPhy_29way_logOdds_rankscore=0.674;Interpro_domain=.\x3bZinc_finger_C2H2-type\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:67,0:0.022:67:25,0:16,0:43,0:36,31,0,0	0/1:72,29:0.282:101:13,9:21,8:45,17:30,42,13,16
chr1	15410300	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,24|3,7;DP=55;ECNT=1;GERMQ=54;MBQ=20,20;MFRL=177,153;MMQ=60,60;MPOS=30;NALOD=1.11;NLOD=3.55;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=8.84;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EFHD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.072:15:2,0:7,0:12,0:6,9,0,0	0/1:23,10:0.329:33:5,2:6,4:15,7:8,15,3,7
chr1	15626879	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,15|2,7;DP=30;ECNT=1;GERMQ=29;MBQ=27,31;MFRL=202,204;MMQ=60,60;MPOS=15;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=24.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DDI2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.1:11:5,0:2,0:8,0:3,8,0,0	0/1:9,9:0.529:18:1,6:3,1:7,8:2,7,2,7
chr1	15728335	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,49|4,4;DP=110;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,132;MMQ=60,60;MPOS=41;NALOD=1.41;NLOD=7.53;POPAF=6;TLOD=13.54;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PLEKHM2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PLEKHM2:NM_015164:exon11:c.C1899T:p.C633C;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.037:44:12,0:13,0:25,0:23,21,0,0	0/1:54,8:0.142:62:15,3:14,1:29,4:26,28,4,4
chr1	15934132	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=82,84|3,3;DP=185;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,132;MMQ=60,60;MPOS=12;NALOD=1.69;NLOD=14.43;POPAF=6;RPA=2,1;RU=G;STR;STRQ=93;TLOD=9.13;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SPEN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SPEN:NM_015001:exon11:c.7893delG:p.E2632Kfs*6;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:75,0:0.02:75:19,0:19,0:48,0:35,40,0,0	0/1:91,6:0.068:97:22,0:24,3:53,3:47,44,3,3
chr1	16029091	COSV58891094	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,26|6,4;DP=82;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=184,174;MMQ=60,60;MPOS=48;NALOD=1.22;NLOD=9.34;POPAF=4.31;TLOD=9.17;AA=p.?,p.?,p.?;CDS=c.925-35C>G,c.1054-35C>G,c.1054-35C>G;CNT=5,5,5;GENE=CLCNKA_ENST00000439316,CLCNKA,CLCNKA_ENST00000375692;HGVSC=ENST00000439316.6:c.925-35C>G,ENST00000331433.4:c.1054-35C>G,ENST00000375692.5:c.1054-35C>G;HGVSG=1:g.16029091C>G,1:g.16029091C>G,1:g.16029091C>G;LEGACY_ID=COSN13485897,COSN13485897,COSN13485897;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CLCNKA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=8.411e-05;AF_raw=8.377e-05;AF_male=8.683e-05;AF_female=8.156e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=6.218e-05;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=0.000399361;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000399361;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.002;avsnp150=rs548518532;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.811e-05;ExAC_OTH=0;ExAC_SAS=0.0010;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,0:0.03:43:15,0:14,0:31,0:29,14,0,0	0/1:27,10:0.265:37:7,3:7,2:16,5:15,12,6,4
chr1	16036663	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=92,86|5,5;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,121;MMQ=60,48;MPOS=9;NALOD=1.61;NLOD=12.04;POPAF=0.83;TLOD=15.95;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=CLCNKA\x3bCLCNKB;GeneDetail.refGene=dist\x3d2613\x3bdist\x3d7119;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0472;AF_raw=0.1581;AF_male=0.0497;AF_female=0.0449;AF_afr=0.0619;AF_ami=0.0226;AF_amr=0.0553;AF_asj=0.0302;AF_eas=0.0670;AF_fin=0.0445;AF_nfe=0.0329;AF_oth=0.0525;AF_sas=0.0506;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs74057560;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:67,0:0.024:67:18,0:19,0:40,0:35,32,0,0	0/1:111,10:0.088:121:21,4:37,1:61,5:57,54,5,5
chr1	16056521	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,27|3,4;DP=86;ECNT=1;GERMQ=72;MBQ=20,20;MFRL=150,129;MMQ=60,60;MPOS=41;NALOD=1.31;NLOD=5.61;POPAF=1.62;RPA=5,4;RU=G;STR;STRQ=93;TLOD=5.27;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CLCNKB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0339;AF_raw=0.0334;AF_male=0.0336;AF_female=0.0341;AF_afr=0.1089;AF_ami=0;AF_amr=0.0168;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0.0004;AF_oth=0.0327;AF_sas=0.0004;ALL.sites.2015_08=0.0313498;AFR.sites.2015_08=0.1112;ALL.sites.2015_08=0.0313498;EUR.sites.2015_08=0.001;AMR.sites.2015_08=0.013;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs149039746;ExAC_ALL=0.0087;ExAC_AFR=0.0962;ExAC_AMR=0.0035;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0011;ExAC_SAS=6.088e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.047:23:7,0:8,0:19,0:15,8,0,0	0/1:42,7:0.15:49:13,2:10,1:27,4:23,19,3,4
chr1	16135703	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,46|20,20;DP=141;ECNT=1;GERMQ=85;MBQ=20,20;MFRL=157,143;MMQ=60,60;MPOS=34;NALOD=1.42;NLOD=7.47;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=42.67;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EPHA2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=EPHA2:NM_001329090:exon5:c.1217delC:p.P406Rfs*33,EPHA2:NM_004431:exon6:c.1379delC:p.P460Rfs*33;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.037:42:8,0:13,0:25,0:23,19,0,0	0/1:55,40:0.444:95:8,11:19,10:29,23:28,27,20,20
chr1	16148339	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,8|3,2;DP=31;ECNT=1;GERMQ=47;MBQ=20,20;MFRL=228,236;MMQ=60,60;MPOS=33;NALOD=1.14;NLOD=3.61;POPAF=6;TLOD=9.1;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EPHA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.21;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.068:15:4,0:7,0:12,0:11,4,0,0	0/1:10,5:0.362:15:4,2:2,0:6,3:6,4,3,2
chr1	16202489	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,71|10,8;DP=170;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,145;MMQ=60,60;MPOS=36;NALOD=1.59;NLOD=11.4;POPAF=6;RPA=4,3;RU=G;STR;STRQ=93;TLOD=17.37;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARHGEF19;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ARHGEF19:NM_153213:exon13:c.1992delC:p.G665Afs*14;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:63,0:0.025:63:20,0:15,0:38,0:33,30,0,0	0/1:85,18:0.183:103:21,6:23,4:48,10:44,41,10,8
chr1	16585820	COSV67432123	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,69|1,10;DP=89;ECNT=1;GERMQ=70;MBQ=36,36;MFRL=220,229;MMQ=60,60;MPOS=42;NALOD=-0.5579;NLOD=9.67;POPAF=0.917;TLOD=27.4;AA=p.?,p.?;CDS=c.779-122A>T,c.779-122A>T;CNT=1,1;GENE=NBPF1_ENST00000432949,NBPF1;HGVSC=ENST00000432949.5:c.779-122A>T,ENST00000430580.6:c.779-122A>T;HGVSG=1:g.16585820T>A,1:g.16585820T>A;LEGACY_ID=COSN29647152,COSN29647152;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0500;AF_raw=0.1255;AF_male=0.0500;AF_female=0.0500;AF_afr=0.0672;AF_ami=0.0197;AF_amr=0.0579;AF_asj=0.0453;AF_eas=0.0111;AF_fin=0.0587;AF_nfe=0.0378;AF_oth=0.0526;AF_sas=0.0811;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs4999346;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,1:0.042:48:20,1:16,0:44,1:3,44,0,1	0/1:29,10:0.27:39:11,4:6,4:26,9:4,25,1,9
chr1	16626015	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,77|7,10;DP=161;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=174,162;MMQ=60,60;MPOS=39;NALOD=1.54;NLOD=9.63;POPAF=0.387;TLOD=34.49;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=CROCCP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.3732;AF_raw=0.4156;AF_male=0.3734;AF_female=0.3729;AF_afr=0.4277;AF_ami=0.2926;AF_amr=0.3645;AF_asj=0.3321;AF_eas=0.4583;AF_fin=0.3844;AF_nfe=0.3334;AF_oth=0.3662;AF_sas=0.3185;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1765551;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.028:49:14,0:15,0:32,0:20,29,0,0	0/1:79,17:0.183:96:16,3:20,4:48,10:31,48,7,10
chr1	16648783	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,18|4,4;DP=81;ECNT=1;GERMQ=90;MBQ=33,20;MFRL=222,213;MMQ=40,50;MPOS=28;NALOD=1.21;NLOD=8.71;POPAF=4.01;RPA=7,6;RU=C;STR;STRQ=93;TLOD=5.93;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_exonic;Gene.refGene=MST1P2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=8.672e-06;AF_raw=6.283e-05;AF_male=0;AF_female=1.678e-05;AF_afr=0;AF_ami=0;AF_amr=9.073e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.031:33:9,0:13,0:29,0:20,13,0,0	0/1:23,8:0.236:31:9,1:9,3:18,5:18,5,4,4
chr1	16760546	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,48|2,2;DP=95;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=189,146;MMQ=48,45;MPOS=23;NALOD=1.45;NLOD=8.12;POPAF=0.932;TLOD=5.64;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MST1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0008;AF_raw=0.0041;AF_male=0.0008;AF_female=0.0009;AF_afr=0.0024;AF_ami=0;AF_amr=0.0005;AF_asj=0;AF_eas=0.0003;AF_fin=9.602e-05;AF_nfe=0.0002;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs76332048;ExAC_ALL=0.0024;ExAC_AFR=0.0111;ExAC_AMR=0.0016;ExAC_EAS=0.0014;ExAC_FIN=0.0012;ExAC_NFE=0.0016;ExAC_OTH=0.0011;ExAC_SAS=0.0021;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.034:39:11,0:15,0:27,0:19,20,0,0	0/1:51,4:0.086:55:13,0:17,2:31,2:23,28,2,2
chr1	16859093	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=110,109|14,11;DP=246;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,173;MMQ=47,59;MPOS=32;NALOD=1.71;NLOD=15.05;POPAF=6;TLOD=54.58;ANNOVAR_DATE=2020-06-08;Func.refGene=upstream;Gene.refGene=MIR3675;GeneDetail.refGene=dist\x3d72;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:84,0:0.019:84:27,0:17,0:50,0:41,43,0,0	0/1:135,25:0.18:160:33,3:36,12:72,15:69,66,14,11
chr1	16930316	COSV65009964	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,43|10,8;DP=103;ECNT=1;GERMQ=88;MBQ=20,20;MFRL=168,118;MMQ=60,60;MPOS=35;NALOD=1.46;NLOD=7.82;POPAF=4.61;TLOD=37.73;AA=p.A218T;CDS=c.652G>A;CNT=1;GENE=CROCC;HGVSC=ENST00000375541.9:c.652G>A;HGVSG=1:g.16930316G>A;HGVSP=ENSP00000364691.4:p.Ala218Thr;LEGACY_ID=COSM4025132;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CROCC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CROCC:NM_014675:exon6:c.G652A:p.A218T;cytoBand=1p36.13;SIFT_score=0.187;SIFT_converted_rankscore=0.214;SIFT_pred=T;SIFT4G_score=0.128;SIFT4G_converted_rankscore=0.350;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.953;MutationTaster_converted_rankscore=0.378;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.54;FATHMM_converted_rankscore=0.139;FATHMM_pred=T;PROVEAN_score=-1.54;PROVEAN_converted_rankscore=0.374;PROVEAN_pred=N;VEST4_score=0.427;VEST4_rankscore=0.466;MetaSVM_score=-1.048;MetaSVM_rankscore=0.149;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.098;MetaLR_pred=T;MetaRNN_score=0.053;MetaRNN_rankscore=0.054;MetaRNN_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.427;M-CAP_pred=T;REVEL_score=0.036;REVEL_rankscore=0.094;MutPred_score=0.248;MutPred_rankscore=0.184;MVP_score=0.314;MVP_rankscore=0.310;MPC_score=0.209;MPC_rankscore=0.234;PrimateAI_score=0.535;PrimateAI_rankscore=0.437;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.405;BayesDel_addAF_rankscore=0.022;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.521;BayesDel_noAF_rankscore=0.202;BayesDel_noAF_pred=T;ClinPred_score=0.073;ClinPred_rankscore=0.090;ClinPred_pred=T;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.436;CADD_raw_rankscore=0.209;CADD_phred=15.32;DANN_score=0.996;DANN_rankscore=0.728;fathmm-MKL_coding_score=0.893;fathmm-MKL_coding_rankscore=0.497;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.269;fathmm-XF_coding_rankscore=0.385;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.138;Eigen-raw_coding_rankscore=0.482;Eigen-PC-raw_coding=0.201;Eigen-PC-raw_coding_rankscore=0.499;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.693;integrated_fitCons_rankscore=0.556;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.14;GERP++_RS=4.22;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=2.670;phyloP100way_vertebrate_rankscore=0.465;phyloP30way_mammalian=-0.763;phyloP30way_mammalian_rankscore=0.035;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.413;phastCons30way_mammalian=0.106;phastCons30way_mammalian_rankscore=0.196;SiPhy_29way_logOdds=7.752;SiPhy_29way_logOdds_rankscore=0.281;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.185e-05;AF_raw=5.579e-05;AF_male=4.317e-05;AF_female=4.061e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.548e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000798722;AFR.sites.2015_08=0.003;ALL.sites.2015_08=0.000798722;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs372750456;ExAC_ALL=6.028e-05;ExAC_AFR=0.0004;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.447e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.034:39:11,0:12,0:26,0:17,22,0,0	0/1:40,18:0.306:58:14,7:8,3:24,10:19,21,10,8
chr1	16938461	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,66|9,12;DP=149;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=160,140;MMQ=60,60;MPOS=36;NALOD=1.52;NLOD=9.63;POPAF=4.61;TLOD=81.58;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CROCC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CROCC:NM_014675:exon11:c.A1352G:p.Q451R;cytoBand=1p36.13;SIFT_score=0.023;SIFT_converted_rankscore=0.482;SIFT_pred=D;SIFT4G_score=0.207;SIFT4G_converted_rankscore=0.270;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.866;MutationTaster_converted_rankscore=0.355;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.85;FATHMM_converted_rankscore=0.106;FATHMM_pred=T;PROVEAN_score=-1.14;PROVEAN_converted_rankscore=0.293;PROVEAN_pred=N;VEST4_score=0.442;VEST4_rankscore=0.480;MetaSVM_score=-1.035;MetaSVM_rankscore=0.188;MetaSVM_pred=T;MetaLR_score=0.064;MetaLR_rankscore=0.264;MetaLR_pred=T;MetaRNN_score=0.193;MetaRNN_rankscore=0.350;MetaRNN_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.346;M-CAP_pred=T;REVEL_score=0.108;REVEL_rankscore=0.311;MutPred_score=0.149;MutPred_rankscore=0.052;MVP_score=0.239;MVP_rankscore=0.235;MPC_score=0.248;MPC_rankscore=0.273;PrimateAI_score=0.643;PrimateAI_rankscore=0.590;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.114;BayesDel_addAF_rankscore=0.341;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.402;BayesDel_noAF_rankscore=0.332;BayesDel_noAF_pred=T;ClinPred_score=0.245;ClinPred_rankscore=0.226;ClinPred_pred=T;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.302;CADD_raw_rankscore=0.591;CADD_phred=24.1;DANN_score=0.930;DANN_rankscore=0.226;fathmm-MKL_coding_score=0.900;fathmm-MKL_coding_rankscore=0.509;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.534;fathmm-XF_coding_rankscore=0.553;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.243;Eigen-raw_coding_rankscore=0.533;Eigen-PC-raw_coding=0.300;Eigen-PC-raw_coding_rankscore=0.555;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.722;integrated_fitCons_rankscore=0.854;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.81;GERP++_RS=4.81;GERP++_RS_rankscore=0.614;phyloP100way_vertebrate=5.647;phyloP100way_vertebrate_rankscore=0.676;phyloP30way_mammalian=1.311;phyloP30way_mammalian_rankscore=0.893;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=12.635;SiPhy_29way_logOdds_rankscore=0.560;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.092e-05;AF_raw=2.092e-05;AF_male=1.439e-05;AF_female=2.707e-05;AF_afr=0;AF_ami=0;AF_amr=7.316e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.097e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:54,0:0.029:54:12,0:17,0:32,0:0|1:16938461_A_G:16938461:25,29,0,0	0|1:73,21:0.245:94:11,3:25,7:39,12:0|1:16938461_A_G:16938461:36,37,9,12
chr1	16938464	COSV65011892	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,66|9,12;DP=148;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=160,140;MMQ=60,60;MPOS=39;NALOD=1.52;NLOD=9.63;POPAF=4.31;TLOD=81.58;AA=p.T452S;CDS=c.1355C>G;CNT=1;GENE=CROCC;HGVSC=ENST00000375541.9:c.1355C>G;HGVSG=1:g.16938464C>G;HGVSP=ENSP00000364691.4:p.Thr452Ser;LEGACY_ID=COSM5620549;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CROCC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CROCC:NM_014675:exon11:c.C1355G:p.T452S;cytoBand=1p36.13;SIFT_score=0.022;SIFT_converted_rankscore=0.486;SIFT_pred=D;SIFT4G_score=0.122;SIFT4G_converted_rankscore=0.357;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.952;MutationTaster_converted_rankscore=0.378;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.91;FATHMM_converted_rankscore=0.100;FATHMM_pred=T;PROVEAN_score=-0.96;PROVEAN_converted_rankscore=0.256;PROVEAN_pred=N;VEST4_score=0.373;VEST4_rankscore=0.415;MetaSVM_score=-1.072;MetaSVM_rankscore=0.091;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.160;MetaLR_pred=T;MetaRNN_score=0.130;MetaRNN_rankscore=0.246;MetaRNN_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.268;M-CAP_pred=T;REVEL_score=0.103;REVEL_rankscore=0.299;MutPred_score=0.119;MutPred_rankscore=0.026;MVP_score=0.295;MVP_rankscore=0.291;MPC_score=0.270;MPC_rankscore=0.295;PrimateAI_score=0.635;PrimateAI_rankscore=0.578;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.121;BayesDel_addAF_rankscore=0.330;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.411;BayesDel_noAF_rankscore=0.321;BayesDel_noAF_pred=T;ClinPred_score=0.202;ClinPred_rankscore=0.205;ClinPred_pred=T;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.429;CADD_raw_rankscore=0.623;CADD_phred=24.5;DANN_score=0.963;DANN_rankscore=0.295;fathmm-MKL_coding_score=0.743;fathmm-MKL_coding_rankscore=0.364;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.162;fathmm-XF_coding_rankscore=0.288;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.314;Eigen-raw_coding_rankscore=0.569;Eigen-PC-raw_coding=0.350;Eigen-PC-raw_coding_rankscore=0.585;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.518;integrated_fitCons_score=0.722;integrated_fitCons_rankscore=0.854;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.81;GERP++_RS=4.81;GERP++_RS_rankscore=0.614;phyloP100way_vertebrate=3.190;phyloP100way_vertebrate_rankscore=0.507;phyloP30way_mammalian=1.025;phyloP30way_mammalian_rankscore=0.407;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=11.634;SiPhy_29way_logOdds_rankscore=0.504;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.185e-05;AF_raw=4.882e-05;AF_male=4.317e-05;AF_female=4.06e-05;AF_afr=4.753e-05;AF_ami=0;AF_amr=7.316e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.097e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs752283593;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=5.395e-05;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:54,0:0.029:54:12,0:16,0:32,0:0|1:16938461_A_G:16938461:25,29,0,0	0|1:73,21:0.245:94:10,3:25,7:39,12:0|1:16938461_A_G:16938461:36,37,9,12
chr1	16948480	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=65,76|11,13;DP=173;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,162;MMQ=60,60;MPOS=47;NALOD=1.54;NLOD=10.23;POPAF=3.23;TLOD=47.17;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CROCC;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CROCC:NM_014675:exon18:c.G2664A:p.A888A;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0006;AF_male=0.0005;AF_female=0.0005;AF_afr=0.0016;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.193e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs370760444;ExAC_ALL=0.0005;ExAC_AFR=0.0018;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.028:57:14,0:19,0:34,0:26,31,0,0	0/1:84,24:0.219:108:19,5:27,8:49,13:39,45,11,13
chr1	16972482	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,25|6,8;DP=53;ECNT=1;GERMQ=45;MBQ=20,20;MFRL=168,195;MMQ=60,60;MPOS=26;NALOD=1.08;NLOD=3.31;POPAF=6;TLOD=28.95;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=CROCC;GeneDetail.refGene=NM_014675:c.*36G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.077:15:5,0:4,0:11,0:5,10,0,0	0/1:24,14:0.36:38:8,5:4,2:15,8:9,15,6,8
chr1	16988312	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=58,57|2,2;DP=123;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=179,160;MMQ=60,60;MPOS=52;NALOD=1.56;NLOD=10.54;POPAF=6;TLOD=5.43;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ATP13A2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:54,0:0.027:54:20,0:14,0:35,0:25,29,0,0	0/1:61,4:0.076:65:14,0:21,2:35,2:33,28,2,2
chr1	16990230	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=91,87|17,19;DP=229;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,173;MMQ=60,60;MPOS=37;NALOD=1.78;NLOD=17.63;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=41.21;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ATP13A2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ATP13A2:NM_001141973:exon21:c.2293delC:p.Q765Rfs*4,ATP13A2:NM_001141974:exon21:c.2293delC:p.Q765Rfs*4,ATP13A2:NM_022089:exon21:c.2308delC:p.Q770Rfs*4;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:93,0:0.016:93:32,0:20,0:59,0:48,45,0,0	0/1:85,36:0.327:121:16,13:26,5:48,23:43,42,17,19
chr1	17622982	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,24|10,5;DP=85;ECNT=1;GERMQ=86;MBQ=20,20;MFRL=183,177;MMQ=60,60;MPOS=40;NALOD=1.46;NLOD=8.03;POPAF=4.61;TLOD=34;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ARHGEF10L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=3.49e-05;AF_raw=3.487e-05;AF_male=2.881e-05;AF_female=4.062e-05;AF_afr=9.517e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs760601129;ExAC_ALL=4.518e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.251e-05;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.034:34:9,0:15,0:27,0:24,10,0,0	0/1:32,15:0.367:47:6,4:12,5:18,10:18,14,10,5
chr1	18875504	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,45|1,1;DP=86;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,136;MMQ=60,60;MPOS=51;NALOD=1.28;NLOD=5.42;POPAF=6;TLOD=6.03;ANNOVAR_DATE=2020-06-08;Func.refGene=splicing;Gene.refGene=ALDH4A1;GeneDetail.refGene=NM_001161504:exon13:c.1159-1G>A\x3bNM_003748:exon13:c.1339-1G>A\x3bNM_001319218:exon12:c.1186-1G>A\x3bNM_170726:exon13:c.1339-1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.625;BayesDel_addAF_rankscore=0.994;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.66;BayesDel_noAF_rankscore=0.994;BayesDel_noAF_pred=D;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=5.546;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.994;DANN_rankscore=0.621;fathmm-MKL_coding_score=0.855;fathmm-MKL_coding_rankscore=0.446;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=0.970;Eigen-raw_coding_rankscore=0.948;Eigen-PC-raw_coding=0.781;Eigen-PC-raw_coding_rankscore=0.884;GenoCanyon_score=1.0;GenoCanyon_rankscore=0.983;integrated_fitCons_score=0.174;integrated_fitCons_rankscore=0.040;integrated_confidence_value=1;LINSIGHT=0.981;LINSIGHT_rankscore=0.864;GERP++_NR=4.9;GERP++_RS=4.9;GERP++_RS_rankscore=0.636;phyloP100way_vertebrate=7.220;phyloP100way_vertebrate_rankscore=0.775;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.977;phastCons30way_mammalian_rankscore=0.468;SiPhy_29way_logOdds=16.628;SiPhy_29way_logOdds_rankscore=0.848;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.05:31:8,0:7,0:18,0:15,16,0,0	0/1:53,2:0.063:55:12,0:16,1:29,1:24,29,1,1
chr1	19284781	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,58|7,10;DP=135;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=181,143;MMQ=60,60;MPOS=44;NALOD=1.61;NLOD=11.68;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=19.06;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AKR7A3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=AKR7A3:NM_012067:exon5:c.608delG:p.G203Afs*3;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:63,0:0.024:63:19,0:14,0:39,0:28,35,0,0	0/1:44,17:0.314:61:7,4:15,3:23,10:21,23,7,10
chr1	19326476	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,31|3,2;DP=69;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,184;MMQ=60,60;MPOS=21;NALOD=1.45;NLOD=8.09;POPAF=6;RPA=5,4;RU=G;STR;STRQ=93;TLOD=4.64;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SLC66A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.035:39:10,0:12,0:27,0:21,18,0,0	0/1:22,5:0.22:27:4,1:5,2:13,3:9,13,3,2
chr1	19374542	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,28|8,8;DP=68;ECNT=1;GERMQ=62;MBQ=20,20;MFRL=173,147;MMQ=60,60;MPOS=16;NALOD=1.26;NLOD=5.12;POPAF=6;TLOD=30.18;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CAPZB;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,1:0.053:29:6,0:8,0:17,0:13,15,1,0	0/1:24,15:0.391:39:6,4:6,3:13,8:11,13,7,8
chr1	19683091	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=76,62|2,2;DP=158;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,205;MMQ=60,60;MPOS=34;NALOD=1.61;NLOD=11.72;POPAF=6;RPA=3,2;RU=C;STR;STRQ=93;TLOD=6.6;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TMCO4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TMCO4:NM_001349112:exon15:c.1853delG:p.G618Afs*63,TMCO4:NM_001349113:exon16:c.1853delG:p.G618Afs*63,TMCO4:NM_181719:exon16:c.1853delG:p.G618Afs*63,TMCO4:NM_001349114:exon17:c.1853delG:p.G618Afs*63;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:65,0:0.024:65:20,0:17,0:39,0:36,29,0,0	0/1:73,4:0.067:77:20,2:20,0:40,2:40,33,2,2
chr1	20144699	.	TCC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,33|1,1;DP=67;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=157,163;MMQ=60,60;MPOS=70;NALOD=1.33;NLOD=6.02;POPAF=6;RPA=4,2;RU=C;STR;STRQ=93;TLOD=6.45;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLA2G2F;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:32,0:0.045:32:5,0:12,0:20,0:0|1:20144699_TCC_T:20144699:15,17,0,0	0|1:29,2:0.098:31:6,1:8,0:17,1:0|1:20144699_TCC_T:20144699:13,16,1,1
chr1	20144703	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,33|1,1;DP=63;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=157,163;MMQ=60,60;MPOS=70;NALOD=1.32;NLOD=6.02;POPAF=6;TLOD=6.47;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLA2G2F;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:32,0:0.045:32:5,0:12,0:20,0:0|1:20144699_TCC_T:20144699:15,17,0,0	0|1:29,2:0.1:31:5,1:7,0:17,1:0|1:20144699_TCC_T:20144699:13,16,1,1
chr1	20485342	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,55|14,23;DP=130;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,145;MMQ=60,60;MPOS=27;NALOD=1.23;NLOD=9.63;POPAF=6;TLOD=82.55;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CAMK2N1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAMK2N1:NM_018584:exon1:c.G38T:p.S13I;cytoBand=1p36.12;SIFT_score=0.039;SIFT_converted_rankscore=0.425;SIFT_pred=D;SIFT4G_score=0.058;SIFT4G_converted_rankscore=0.462;SIFT4G_pred=T;Polyphen2_HDIV_score=0.434;Polyphen2_HDIV_rankscore=0.357;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.129;Polyphen2_HVAR_rankscore=0.328;Polyphen2_HVAR_pred=B;LRT_score=0.023;LRT_converted_rankscore=0.265;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_converted_rankscore=0.222;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=-3.7;PROVEAN_converted_rankscore=0.706;PROVEAN_pred=D;VEST4_score=0.259;VEST4_rankscore=0.293;MetaSVM_score=-0.993;MetaSVM_rankscore=0.320;MetaSVM_pred=T;MetaLR_score=0.079;MetaLR_rankscore=0.315;MetaLR_pred=T;MetaRNN_score=0.214;MetaRNN_rankscore=0.379;MetaRNN_pred=T;M-CAP_score=0.259;M-CAP_rankscore=0.894;M-CAP_pred=D;REVEL_score=0.045;REVEL_rankscore=0.126;MutPred_score=0.267;MutPred_rankscore=0.214;MVP_score=0.107;MVP_rankscore=0.102;MPC_score=1.356;MPC_rankscore=0.842;PrimateAI_score=0.856;PrimateAI_rankscore=0.906;PrimateAI_pred=D;DEOGEN2_score=0.101;DEOGEN2_rankscore=0.408;DEOGEN2_pred=T;BayesDel_addAF_score=-0.033;BayesDel_addAF_rankscore=0.470;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.285;BayesDel_noAF_rankscore=0.463;BayesDel_noAF_pred=T;ClinPred_score=0.821;ClinPred_rankscore=0.479;ClinPred_pred=D;LIST-S2_score=0.538;LIST-S2_rankscore=0.181;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.220;CADD_raw_rankscore=0.571;CADD_phred=23.9;DANN_score=0.995;DANN_rankscore=0.686;fathmm-MKL_coding_score=0.736;fathmm-MKL_coding_rankscore=0.360;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.411;fathmm-XF_coding_rankscore=0.481;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.090;Eigen-raw_coding_rankscore=0.378;Eigen-PC-raw_coding=-0.066;Eigen-PC-raw_coding_rankscore=0.368;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.726;integrated_fitCons_rankscore=0.872;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=2.89;GERP++_RS=2.89;GERP++_RS_rankscore=0.327;phyloP100way_vertebrate=1.192;phyloP100way_vertebrate_rankscore=0.318;phyloP30way_mammalian=0.938;phyloP30way_mammalian_rankscore=0.338;phastCons100way_vertebrate=0.975;phastCons100way_vertebrate_rankscore=0.347;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=11.626;SiPhy_29way_logOdds_rankscore=0.504;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.029:47:13,0:18,0:32,0:15,32,0,0	0/1:43,37:0.5:80:13,12:9,7:23,23:20,23,14,23
chr1	20973003	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,52|21,19;DP=149;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,142;MMQ=60,60;MPOS=41;NALOD=1.48;NLOD=8.66;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=33.79;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EIF4G3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=EIF4G3:NM_003760:exon6:c.421delA:p.T141Lfs*2,EIF4G3:NM_001198801:exon8:c.421delA:p.T141Lfs*2,EIF4G3:NM_001198802:exon9:c.442delA:p.T148Lfs*2,EIF4G3:NM_001198803:exon9:c.454delA:p.T152Lfs*2;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.032:47:13,0:12,0:29,0:24,23,0,0	0/1:58,40:0.406:98:17,13:13,8:31,21:29,29,21,19
chr1	21426258	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,23|5,5;DP=56;ECNT=1;GERMQ=34;MBQ=20,20;MFRL=155,174;MMQ=47,47;MPOS=54;NALOD=1.04;NLOD=3.01;POPAF=4.01;TLOD=19.22;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=ECE1\x3bNBPF3;GeneDetail.refGene=dist\x3d80754\x3bdist\x3d13879;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=9.779e-05;AF_raw=0.0001;AF_male=0.0001;AF_female=8.127e-05;AF_afr=0.0003;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.098e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000399361;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000399361;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=0.001;SAS.sites.2015_08=.;avsnp150=rs568509196;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:17,0:0.083:17:4,0:6,0:10,0:9,8,0,0	0/1:28,10:0.274:38:7,4:7,1:15,5:13,15,5,5
chr1	21427858	.	T	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=108,101|12,7;DP=237;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,124;MMQ=60,60;MPOS=19;NALOD=1.82;NLOD=19.26;POPAF=6;TLOD=36.46;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=ECE1\x3bNBPF3;GeneDetail.refGene=dist\x3d82354\x3bdist\x3d12279;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:109,0:0.015:109:25,0:39,0:64,0:57,52,0,0	0/1:100,19:0.189:119:21,5:31,6:53,12:51,49,12,7
chr1	21436119	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=37,37|2,2;DP=79;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=145,93;MMQ=60,41;MPOS=33;NALOD=1.08;NLOD=3.31;POPAF=4.01;TLOD=5.51;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=ECE1\x3bNBPF3;GeneDetail.refGene=dist\x3d90615\x3bdist\x3d4018;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=6.976e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs200912893;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.077:18:5,0:5,0:11,0:10,8,0,0	0/1:56,4:0.086:60:15,0:12,2:31,2:27,29,2,2
chr1	21436164	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,22|2,2;DP=46;ECNT=2;GERMQ=41;MBQ=20,20;MFRL=157,93;MMQ=60,41;MPOS=14;NALOD=1;NLOD=2.71;POPAF=3.91;TLOD=6.48;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=ECE1\x3bNBPF3;GeneDetail.refGene=dist\x3d90660\x3bdist\x3d3973;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=2.092e-05;AF_male=0;AF_female=1.354e-05;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs202052864;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.091:15:2,0:5,0:9,0:7,8,0,0	0/1:24,4:0.166:28:7,0:3,2:14,2:10,14,2,2
chr1	21575668	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,9|1,1;DP=29;ECNT=2;GERMQ=58;MBQ=20,20;MFRL=175,178;MMQ=60,60;MPOS=31;NALOD=0.954;NLOD=2.41;POPAF=6;RPA=4,3;RU=G;STR;STRQ=93;TLOD=5.55;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ALPL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:9,0:0.1:9:3,0:4,0:8,0:0|1:21575668_TG_T:21575668:8,1,0,0	0|1:18,2:0.154:20:7,0:2,1:10,1:0|1:21575668_TG_T:21575668:10,8,1,1
chr1	21575678	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,12|1,1;DP=40;ECNT=2;GERMQ=68;MBQ=20,20;MFRL=175,178;MMQ=60,60;MPOS=40;NALOD=1;NLOD=2.71;POPAF=6;TLOD=5.33;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ALPL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs890836394;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:12,0:0.091:12:4,0:4,0:9,0:0|1:21575668_TG_T:21575668:9,3,0,0	0|1:22,2:0.123:24:7,0:6,1:13,1:0|1:21575668_TG_T:21575668:13,9,1,1
chr1	21603817	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,57|21,23;DP=160;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,137;MMQ=60,60;MPOS=37;NALOD=1.61;NLOD=11.74;POPAF=6;TLOD=96.12;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RAP1GAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RAP1GAP:NM_001330383:exon20:c.C1524T:p.A508A,RAP1GAP:NM_001350524:exon21:c.C1524T:p.A508A;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.093e-05;AF_raw=2.092e-05;AF_male=2.879e-05;AF_female=1.354e-05;AF_afr=4.757e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.548e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766959852;ExAC_ALL=1.001e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.799e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.024:62:18,0:18,0:39,0:30,32,0,0	0/1:46,44:0.48:90:11,7:13,15:25,23:21,25,21,23
chr1	21609600	.	A	AG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=48,42|13,9;DP=119;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=150,134;MMQ=60,60;MPOS=26;NALOD=1.34;NLOD=5.88;POPAF=4.61;RPA=7,8;RU=G;STR;STRQ=93;TLOD=19.29;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RAP1GAP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=RAP1GAP:NM_001145658:exon15:c.1237dupC:p.L413Pfs*12,RAP1GAP:NM_002885:exon15:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001145657:exon16:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001330383:exon16:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001350524:exon17:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001350525:exon17:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001350527:exon17:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001350528:exon17:c.1045dupC:p.L349Pfs*12,RAP1GAP:NM_001350526:exon18:c.1045dupC:p.L349Pfs*12;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.105e-05;AF_raw=2.097e-05;AF_male=1.45e-05;AF_female=2.72e-05;AF_afr=2.392e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.108e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs753793537;ExAC_ALL=3.515e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.244e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.044:33:6,0:12,0:20,0:17,16,0,0	0/1:57,22:0.299:79:15,6:17,7:33,14:31,26,13,9
chr1	21704398	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,30|9,12;DP=94;ECNT=1;GERMQ=50;MBQ=20,20;MFRL=169,165;MMQ=60,60;MPOS=47;NALOD=0.251;NLOD=4.34;POPAF=6;RPA=10,9;RU=A;STR;STRQ=30;TLOD=16.62;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USP48;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.251e-05;AF_raw=9.417e-05;AF_male=1.563e-05;AF_female=2.886e-05;AF_afr=2.558e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=1.626e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs749210471;ExAC_ALL=0.0082;ExAC_AFR=0.0063;ExAC_AMR=0.0031;ExAC_EAS=0.0050;ExAC_FIN=0.0009;ExAC_NFE=0.0110;ExAC_OTH=0.0116;ExAC_SAS=0.0058;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,2:0.079:37:8,0:10,1:21,1:16,19,1,1	0/1:23,19:0.464:42:8,4:5,5:13,11:12,11,8,11
chr1	21823365	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,46|10,10;DP=115;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=153,125;MMQ=60,60;MPOS=34;NALOD=1.55;NLOD=10.23;POPAF=6;TLOD=43.14;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HSPG2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HSPG2:NM_001291860:exon97:c.T13130C:p.L4377P,HSPG2:NM_005529:exon97:c.T13127C:p.L4376P;cytoBand=1p36.12;SIFT_score=0.002;SIFT_converted_rankscore=0.722;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.992;Polyphen2_HVAR_rankscore=0.804;Polyphen2_HVAR_pred=D;LRT_score=0.147;LRT_converted_rankscore=0.181;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.175;MutationAssessor_rankscore=0.888;MutationAssessor_pred=M;FATHMM_score=-1.12;FATHMM_converted_rankscore=0.776;FATHMM_pred=T;PROVEAN_score=-4.46;PROVEAN_converted_rankscore=0.778;PROVEAN_pred=D;VEST4_score=0.502;VEST4_rankscore=0.534;MetaSVM_score=0.401;MetaSVM_rankscore=0.891;MetaSVM_pred=D;MetaLR_score=0.648;MetaLR_rankscore=0.877;MetaLR_pred=D;MetaRNN_score=0.675;MetaRNN_rankscore=0.709;MetaRNN_pred=D;M-CAP_score=0.327;M-CAP_rankscore=0.916;M-CAP_pred=D;REVEL_score=0.594;REVEL_rankscore=0.841;MutPred_score=0.238;MutPred_rankscore=0.169;MVP_score=0.927;MVP_rankscore=0.927;MPC_score=1.001;MPC_rankscore=0.744;PrimateAI_score=0.761;PrimateAI_rankscore=0.761;PrimateAI_pred=T;DEOGEN2_score=0.844;DEOGEN2_rankscore=0.964;DEOGEN2_pred=D;BayesDel_addAF_score=0.141;BayesDel_addAF_rankscore=0.684;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.035;BayesDel_noAF_rankscore=0.680;BayesDel_noAF_pred=D;ClinPred_score=0.987;ClinPred_rankscore=0.776;ClinPred_pred=D;LIST-S2_score=0.679;LIST-S2_rankscore=0.288;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=4.394;CADD_raw_rankscore=0.900;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.956;fathmm-MKL_coding_score=0.974;fathmm-MKL_coding_rankscore=0.747;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.964;fathmm-XF_coding_rankscore=0.987;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.841;Eigen-raw_coding_rankscore=0.886;Eigen-PC-raw_coding=0.786;Eigen-PC-raw_coding_rankscore=0.888;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.21;GERP++_RS=5.21;GERP++_RS_rankscore=0.720;phyloP100way_vertebrate=6.454;phyloP100way_vertebrate_rankscore=0.734;phyloP30way_mammalian=1.312;phyloP30way_mammalian_rankscore=0.947;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=13.049;SiPhy_29way_logOdds_rankscore=0.584;Interpro_domain=Laminin_G_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.027:53:14,0:15,0:34,0:25,28,0,0	0/1:37,20:0.323:57:8,8:11,2:22,10:19,18,10,10
chr1	21847302	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=19,10|3,2;DP=34;ECNT=1;GERMQ=49;MBQ=20,20;MFRL=176,219;MMQ=60,60;MPOS=16;NALOD=1.17;NLOD=4.12;POPAF=6;TLOD=11.14;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HSPG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.063:22:4,0:10,0:14,0:14,8,0,0	0/1:7,5:0.4:12:3,1:2,2:5,3:5,2,3,2
chr1	21888634	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,32|5,5;DP=75;ECNT=1;GERMQ=86;MBQ=20,20;MFRL=149,137;MMQ=60,60;MPOS=40;NALOD=1.2;NLOD=4.52;POPAF=6;TLOD=18.47;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HSPG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:26,0:0.059:26:7,0:7,0:15,0:14,12,0,0	0/1:39,10:0.222:49:11,1:7,4:20,5:19,20,5,5
chr1	21898364	.	TCTC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=55,46|17,14;DP=134;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,140;MMQ=60,60;MPOS=30;NALOD=1.53;NLOD=9.93;POPAF=6;RPA=2,1;RU=CTC;STR;STRQ=93;TLOD=93.92;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HSPG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs754570758;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.029:50:11,0:17,0:33,0:29,21,0,0	0/1:51,31:0.383:82:12,8:14,9:28,17:26,25,17,14
chr1	22009790	COSV51583911	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=85,98|20,22;DP=227;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,139;MMQ=60,60;MPOS=36;NALOD=1.7;NLOD=14.75;POPAF=6;TLOD=84.93;AA=p.G243D;CDS=c.728G>A;CNT=2;GENE=CELA3A;HGVSC=ENST00000290122.7:c.728G>A;HGVSG=1:g.22009790G>A;HGVSP=ENSP00000290122.3:p.Gly243Asp;LEGACY_ID=COSM3730795;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CELA3A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CELA3A:NM_005747:exon7:c.G728A:p.G243D;cytoBand=1p36.12;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.004;SIFT4G_converted_rankscore=0.742;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.47;MutationAssessor_rankscore=0.717;MutationAssessor_pred=M;FATHMM_score=-2.57;FATHMM_converted_rankscore=0.897;FATHMM_pred=D;PROVEAN_score=-5.83;PROVEAN_converted_rankscore=0.925;PROVEAN_pred=D;VEST4_score=0.577;VEST4_rankscore=0.599;MetaSVM_score=0.686;MetaSVM_rankscore=0.930;MetaSVM_pred=D;MetaLR_score=0.775;MetaLR_rankscore=0.924;MetaLR_pred=D;MetaRNN_score=0.961;MetaRNN_rankscore=0.955;MetaRNN_pred=D;M-CAP_score=0.201;M-CAP_rankscore=0.867;M-CAP_pred=D;REVEL_score=0.840;REVEL_rankscore=0.951;MutPred_score=0.754;MutPred_rankscore=0.884;MVP_score=0.905;MVP_rankscore=0.904;MPC_score=0.527;MPC_rankscore=0.503;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.487;DEOGEN2_rankscore=0.813;DEOGEN2_pred=T;BayesDel_addAF_score=0.302;BayesDel_addAF_rankscore=0.831;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.195;BayesDel_noAF_rankscore=0.829;BayesDel_noAF_pred=D;ClinPred_score=0.993;ClinPred_rankscore=0.834;ClinPred_pred=D;LIST-S2_score=0.820;LIST-S2_rankscore=0.479;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.356;CADD_raw_rankscore=0.604;CADD_phred=24.3;DANN_score=0.997;DANN_rankscore=0.820;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_rankscore=0.725;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.959;fathmm-XF_coding_rankscore=0.980;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.500;Eigen-raw_coding_rankscore=0.671;Eigen-PC-raw_coding=0.374;Eigen-PC-raw_coding_rankscore=0.600;GenoCanyon_score=0.992;GenoCanyon_rankscore=0.326;integrated_fitCons_score=0.570;integrated_fitCons_rankscore=0.327;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.65;GERP++_RS=3.65;GERP++_RS_rankscore=0.410;phyloP100way_vertebrate=7.949;phyloP100way_vertebrate_rankscore=0.873;phyloP30way_mammalian=1.113;phyloP30way_mammalian_rankscore=0.556;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.758;phastCons30way_mammalian_rankscore=0.323;SiPhy_29way_logOdds=12.895;SiPhy_29way_logOdds_rankscore=0.575;Interpro_domain=Serine_proteases,_trypsin_domain|Serine_proteases,_trypsin_domain|Serine_proteases,_trypsin_domain|Serine_proteases,_trypsin_domain\x3bSerine_proteases,_trypsin_domain|Serine_proteases,_trypsin_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:79,0:0.019:79:22,0:25,0:49,0:35,44,0,0	0/1:104,42:0.291:146:20,8:33,12:55,22:50,54,20,22
chr1	22601515	.	AG	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,11|14,19;DP=76;ECNT=1;GERMQ=50;MBQ=20,20;MFRL=207,168;MMQ=60,60;MPOS=28;NALOD=1.28;NLOD=5.08;POPAF=1.82;RPA=9,8;RU=G;STR;STRQ=93;TLOD=43.97;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EPHA8;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0079;AF_raw=0.0088;AF_male=0.0079;AF_female=0.0080;AF_afr=0.0186;AF_ami=0.0012;AF_amr=0.0047;AF_asj=0.0006;AF_eas=0.0028;AF_fin=0.0018;AF_nfe=0.0036;AF_oth=0.0066;AF_sas=0.0034;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs767288588;ExAC_ALL=0.2487;ExAC_AFR=0.1985;ExAC_AMR=0.2506;ExAC_EAS=0.2252;ExAC_FIN=0.1654;ExAC_NFE=0.2540;ExAC_OTH=0.2459;ExAC_SAS=0.2781;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.05:22:8,0:7,0:17,0:13,9,0,0	0/1:6,33:0.823:39:2,9:2,7:4,22:4,2,14,19
chr1	22906828	COSV65860347	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,74|15,16;DP=183;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,143;MMQ=60,60;MPOS=24;NALOD=1.7;NLOD=14.74;POPAF=6;TLOD=68.39;AA=p.S669%3D,p.S664%3D,p.S669%3D,p.S670%3D;CDS=c.2007C>T,c.1992C>T,c.2007C>T,c.2010C>T;CNT=4,4,4,4;GENE=EPHB2,EPHB2_ENST00000374627,EPHB2_ENST00000374630,EPHB2_ENST00000374632;HGVSC=ENST00000400191.7:c.2007C>T,ENST00000374627.1:c.1992C>T,ENST00000374630.7:c.2007C>T,ENST00000374632.7:c.2010C>T;HGVSG=1:g.22906828C>T,1:g.22906828C>T,1:g.22906828C>T,1:g.22906828C>T;HGVSP=ENSP00000383053.3:p.Ser669%3D,ENSP00000363758.1:p.Ser664%3D,ENSP00000363761.3:p.Ser669%3D,ENSP00000363763.3:p.Ser670%3D;LEGACY_ID=COSM905547,COSM905547,COSM905547,COSM905547;STRAND=+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EPHB2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=EPHB2:NM_001309192:exon9:c.C1833T:p.S611S,EPHB2:NM_001309193:exon11:c.C2007T:p.S669S,EPHB2:NM_004442:exon11:c.C2010T:p.S670S,EPHB2:NM_017449:exon11:c.C2007T:p.S669S;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs751175904;ExAC_ALL=8.242e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:80,0:0.019:80:27,0:19,0:49,0:35,45,0,0	0/1:63,31:0.339:94:21,8:14,9:36,18:34,29,15,16
chr1	22913655	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,40|2,2;DP=95;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=187,137;MMQ=60,60;MPOS=21;NALOD=1.59;NLOD=11.14;POPAF=6;TLOD=5.8;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=EPHB2;GeneDetail.refGene=NM_004442:c.*85C>T\x3bNM_001309192:c.*85C>T\x3bNM_017449:c.*85C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.025:46:18,0:17,0:37,0:28,18,0,0	0/1:43,4:0.097:47:13,0:12,2:27,2:21,22,2,2
chr1	22913752	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=65,30|24,7;DP=146;ECNT=1;GERMQ=93;MBQ=35,35;MFRL=186,157;MMQ=60,60;MPOS=27;NALOD=1.22;NLOD=13.14;POPAF=2.79;RPA=9,8;RU=A;STR;STRQ=60;TLOD=28.94;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EPHB2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=EPHB2:NM_001309193:exon17:c.3051delA:p.K1020Rfs*63;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0022;AF_raw=0.0022;AF_male=0.0018;AF_female=0.0025;AF_afr=0.0072;AF_ami=0;AF_amr=0.0007;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.565e-05;AF_oth=0.0010;AF_sas=0;ALL.sites.2015_08=0.00259585;AFR.sites.2015_08=0.0068;ALL.sites.2015_08=0.00259585;EUR.sites.2015_08=.;AMR.sites.2015_08=0.0058;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs563863657;ExAC_ALL=0.0043;ExAC_AFR=0.0158;ExAC_AMR=0.0052;ExAC_EAS=0.0036;ExAC_FIN=0.0025;ExAC_NFE=0.0038;ExAC_OTH=0.0042;ExAC_SAS=0.0006;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.021:49:18,0:14,0:46,0:30,19,0,0	0/1:46,31:0.415:77:21,10:14,15:37,28:35,11,24,7
chr1	22953195	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,57|18,20;DP=152;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,170;MMQ=60,60;MPOS=46;NALOD=1.55;NLOD=10.23;POPAF=6;TLOD=86.62;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LACTBL1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LACTBL1:NM_001289974:exon8:c.G1588A:p.D530N;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=0.4;SIFT4G_converted_rankscore=0.155;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=1.04;MutationAssessor_rankscore=0.262;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.4;VEST4_rankscore=0.441;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=0.110;MetaRNN_rankscore=0.206;MetaRNN_pred=T;M-CAP_score=0.064;M-CAP_rankscore=0.692;M-CAP_pred=D;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.234;MVP_rankscore=0.230;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=4.07E-4;DEOGEN2_rankscore=0.001;DEOGEN2_pred=T;BayesDel_addAF_score=-0.452;BayesDel_addAF_rankscore=0.011;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.617;BayesDel_noAF_rankscore=0.114;BayesDel_noAF_pred=T;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=0.855;LIST-S2_rankscore=0.543;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=1.831;CADD_raw_rankscore=0.274;CADD_phred=17.96;DANN_score=0.838;DANN_rankscore=0.149;fathmm-MKL_coding_score=0.620;fathmm-MKL_coding_rankscore=0.316;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.104;fathmm-XF_coding_rankscore=0.208;fathmm-XF_coding_pred=N;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=0.959;GenoCanyon_rankscore=0.284;integrated_fitCons_score=0.598;integrated_fitCons_rankscore=0.345;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.7;GERP++_RS=3.78;GERP++_RS_rankscore=0.426;phyloP100way_vertebrate=2.624;phyloP100way_vertebrate_rankscore=0.461;phyloP30way_mammalian=0.857;phyloP30way_mammalian_rankscore=0.321;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.022;phastCons30way_mammalian_rankscore=0.144;SiPhy_29way_logOdds=8.005;SiPhy_29way_logOdds_rankscore=0.295;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.395e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.707e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.097e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs982949097;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:51,0:0.027:51:20,0:11,0:34,0:23,28,0,0	0/1:59,38:0.418:97:9,12:21,9:31,22:30,29,18,20
chr1	23015737	.	C	CA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,36|18,13;DP=124;ECNT=1;GERMQ=22;MBQ=20,20;MFRL=168,152;MMQ=60,60;MPOS=19;NALOD=0.291;NLOD=6.14;POPAF=2.02;RPA=10,11;RU=A;STR;STRQ=45;TLOD=14.62;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TEX46;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0014;AF_male=0.0005;AF_female=0.0006;AF_afr=0.0006;AF_ami=0;AF_amr=0.0007;AF_asj=0;AF_eas=0.0057;AF_fin=0.0006;AF_nfe=0.0003;AF_oth=0;AF_sas=0.0004;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs373171250;ExAC_ALL=0.2824;ExAC_AFR=0.25;ExAC_AMR=0.3810;ExAC_EAS=0.2361;ExAC_FIN=.;ExAC_NFE=0.2763;ExAC_OTH=0.3;ExAC_SAS=0.2850;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,3:0.068:49:9,1:19,1:29,2:27,19,2,1	0/1:39,28:0.419:67:12,6:9,9:22,16:22,17,16,12
chr1	23786433	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,49|2,2;DP=101;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,162;MMQ=60,60;MPOS=31;NALOD=1.38;NLOD=6.92;POPAF=6;TLOD=5.59;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PITHD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.04:41:12,0:10,0:23,0:20,21,0,0	0/1:55,4:0.091:59:12,2:17,0:29,2:27,28,2,2
chr1	23796495	COSV100994767	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,5|14,3;DP=69;ECNT=2;GERMQ=71;MBQ=34,20;MFRL=161,141;MMQ=60,60;MPOS=16;NALOD=1.34;NLOD=6.17;POPAF=6;TLOD=17.8;AA=p.?,p.?;CDS=c.873+13del,c.873+13del;CNT=1,1;GENE=GALE,GALE_ENST00000374497;HGVSC=ENST00000617979.4:c.873+13del,ENST00000374497.7:c.873+13del;HGVSG=1:g.23796496del,1:g.23796496del;LEGACY_ID=COSN30748977,COSN30748977;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GALE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.426e-05;AF_raw=1.404e-05;AF_male=2.952e-05;AF_female=0;AF_afr=2.437e-05;AF_ami=0;AF_amr=7.52e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs749620338;ExAC_ALL=1.714e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.564e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:23,0:0.044:23:13,0:7,0:21,0:0|1:23796495_GC_G:23796495:20,3,0,0	0|1:24,17:0.381:41:14,7:8,7:22,14:0|1:23796495_GC_G:23796495:22,2,14,3
chr1	23796497	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,5|14,4;DP=69;ECNT=2;GERMQ=69;MBQ=22,20;MFRL=161,141;MMQ=60,60;MPOS=17;NALOD=1.06;NLOD=6.17;POPAF=6;TLOD=19.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GALE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.403e-05;AF_raw=2.094e-05;AF_male=2.896e-05;AF_female=0;AF_afr=2.393e-05;AF_ami=0;AF_amr=7.363e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs778707907;ExAC_ALL=1.684e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.067e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:23,0:0.044:23:14,0:7,0:21,0:0|1:23796495_GC_G:23796495:20,3,0,0	0|1:24,18:0.385:42:14,7:7,6:22,14:0|1:23796495_GC_G:23796495:22,2,14,4
chr1	23798809	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,27|1,2;DP=48;ECNT=1;GERMQ=61;MBQ=20,20;MFRL=193,196;MMQ=60,60;MPOS=44;NALOD=1.28;NLOD=5.42;POPAF=3.61;TLOD=5.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GALE;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0005;AF_male=0.0004;AF_female=0.0006;AF_afr=7.139e-05;AF_ami=0.0389;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0.0005;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs7551384;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.05:24:9,0:4,0:18,0:9,15,0,0	0/1:20,3:0.176:23:4,1:4,0:13,2:8,12,1,2
chr1	24057516	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,60|15,14;DP=164;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,135;MMQ=60,60;MPOS=30;NALOD=1.66;NLOD=13.21;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=27.97;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MYOM3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MYOM3:NM_152372:exon37:c.4161delG:p.T1388Qfs*47;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:71,0:0.021:71:21,0:18,0:44,0:36,35,0,0	0/1:50,29:0.355:79:14,5:13,10:28,15:25,25,15,14
chr1	24061117	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,52|9,9;DP=120;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,149;MMQ=60,60;MPOS=30;NALOD=1.41;NLOD=7.53;POPAF=6;TLOD=34.52;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MYOM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.037:40:12,0:13,0:25,0:19,21,0,0	0/1:62,18:0.25:80:15,5:16,5:32,10:31,31,9,9
chr1	25245303	.	TAAA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,31|11,11;DP=97;ECNT=1;GERMQ=54;MBQ=20,20;MFRL=166,182;MMQ=60,60;MPOS=39;NALOD=0.918;NLOD=5.94;POPAF=6;RPA=10,7;RU=A;STR;STRQ=93;TLOD=46.24;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RSRP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.042:34:9,0:9,0:20,0:17,17,0,0	0/1:25,22:0.471:47:5,8:7,4:15,13:11,14,11,11
chr1	25498380	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=108,113|7,5;DP=244;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,160;MMQ=60,60;MPOS=26;NALOD=1.79;NLOD=17.91;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=7.5;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MACO1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MACO1:NM_001282564:exon9:c.1229delC:p.H412Tfs*24,MACO1:NM_018202:exon11:c.1910delC:p.H639Tfs*24;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:89,0:0.016:89:22,0:27,0:60,0:46,43,0,0	0/1:132,12:0.092:144:39,2:24,5:76,7:62,70,7,5
chr1	26122019	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=62,66|18,18;DP=174;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,159;MMQ=60,60;MPOS=34;NALOD=1.66;NLOD=13.2;POPAF=6;RPA=5,4;RU=A;STR;STRQ=93;TLOD=36.38;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PDIK1L;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PDIK1L:NM_001243532:exon3:c.469delA:p.N158Tfs*14,PDIK1L:NM_152835:exon3:c.469delA:p.N158Tfs*14,PDIK1L:NM_001243533:exon4:c.469delA:p.N158Tfs*14;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:64,0:0.022:64:11,0:28,0:44,0:33,31,0,0	0/1:64,36:0.367:100:15,10:18,8:35,20:29,35,18,18
chr1	26367536	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,14|3,2;DP=38;ECNT=1;GERMQ=39;MBQ=20,20;MFRL=201,199;MMQ=60,60;MPOS=21;NALOD=1.11;NLOD=3.28;POPAF=4.61;RPA=6,5;RU=C;STR;STRQ=93;TLOD=4.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZNF683;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.886e-05;AF_raw=4.882e-05;AF_male=5.762e-05;AF_female=4.062e-05;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=9.293e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.073:15:5,0:4,0:11,0:9,6,0,0	0/1:16,5:0.285:21:3,1:5,2:9,3:8,8,3,2
chr1	26772626	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=67,66|6,7;DP=149;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,169;MMQ=60,60;MPOS=39;NALOD=1.59;NLOD=11.44;POPAF=6;TLOD=24;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARID1A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ARID1A:NM_006015:exon13:c.G3533A:p.G1178D,ARID1A:NM_139135:exon13:c.G3533A:p.G1178D;cytoBand=1p36.11;SIFT_score=0.002;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.035;SIFT4G_converted_rankscore=0.558;SIFT4G_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.879;Polyphen2_HVAR_rankscore=0.886;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.7;MutationAssessor_rankscore=0.438;MutationAssessor_pred=L;FATHMM_score=4.32;FATHMM_converted_rankscore=0.029;FATHMM_pred=T;PROVEAN_score=-3.81;PROVEAN_converted_rankscore=0.721;PROVEAN_pred=D;VEST4_score=0.821;VEST4_rankscore=0.941;MetaSVM_score=-1.194;MetaSVM_rankscore=0.002;MetaSVM_pred=T;MetaLR_score=0.033;MetaLR_rankscore=0.142;MetaLR_pred=T;MetaRNN_score=0.571;MetaRNN_rankscore=0.653;MetaRNN_pred=D;M-CAP_score=0.011;M-CAP_rankscore=0.272;M-CAP_pred=T;REVEL_score=0.343;REVEL_rankscore=0.668;MutPred_score=0.093;MutPred_rankscore=0.011;MVP_score=0.674;MVP_rankscore=0.671;MPC_score=0.675;MPC_rankscore=0.597;PrimateAI_score=0.791;PrimateAI_rankscore=0.807;PrimateAI_pred=T;DEOGEN2_score=0.597;DEOGEN2_rankscore=0.870;DEOGEN2_pred=D;BayesDel_addAF_score=0.158;BayesDel_addAF_rankscore=0.700;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.011;BayesDel_noAF_rankscore=0.696;BayesDel_noAF_pred=D;ClinPred_score=0.970;ClinPred_rankscore=0.687;ClinPred_pred=D;LIST-S2_score=0.919;LIST-S2_rankscore=0.708;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.922;CADD_raw_rankscore=0.760;CADD_phred=26.5;DANN_score=0.982;DANN_rankscore=0.394;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.838;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.947;fathmm-XF_coding_rankscore=0.956;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.792;Eigen-raw_coding_rankscore=0.856;Eigen-PC-raw_coding=0.783;Eigen-PC-raw_coding_rankscore=0.886;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.16;GERP++_RS=5.16;GERP++_RS_rankscore=0.706;phyloP100way_vertebrate=6.887;phyloP100way_vertebrate_rankscore=0.754;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=18.842;SiPhy_29way_logOdds_rankscore=0.922;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.025:57:15,0:20,0:38,0:30,27,0,0	0/1:76,13:0.166:89:25,4:14,3:39,7:37,39,6,7
chr1	26774776	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,50|19,18;DP=145;ECNT=1;GERMQ=86;MBQ=20,20;MFRL=178,159;MMQ=60,60;MPOS=34;NALOD=1.43;NLOD=7.19;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=39.35;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARID1A;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ARID1A:NM_006015:exon18:c.4550delC:p.Q1519Rfs*8;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.036:37:8,0:9,0:24,0:18,19,0,0	0/1:55,37:0.394:92:14,8:13,12:34,22:24,31,19,18
chr1	26779439	.	T	TG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=67,62|15,15;DP=178;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,158;MMQ=60,60;MPOS=29;NALOD=1.58;NLOD=10.77;POPAF=6;RPA=7,8;RU=G;STR;STRQ=93;TLOD=23.73;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARID1A;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=ARID1A:NM_006015:exon20:c.5542dupG:p.D1850Gfs*4,ARID1A:NM_139135:exon20:c.4891dupG:p.D1633Gfs*4;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs758608743;ExAC_ALL=1.65e-05;ExAC_AFR=9.636e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.501e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.026:56:17,0:15,0:36,0:30,26,0,0	0/1:73,30:0.306:103:11,7:27,7:39,17:37,36,15,15
chr1	26893529	.	CTTTTTTTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,7|1,2;DP=23;ECNT=1;GERMQ=12;MBQ=20,20;MFRL=181,207;MMQ=60,60;MPOS=67;NALOD=0.577;NLOD=2.38;POPAF=6;RPA=21,13;RU=T;STR;STRQ=93;TLOD=11.89;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GPATCH3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.097:11:1,0:4,0:8,0:5,6,0,0	0/1:4,3:0.433:7:0,0:3,1:3,2:3,1,1,2
chr1	27282386	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,12|1,2;DP=22;ECNT=1;GERMQ=35;MBQ=37,20;MFRL=214,134;MMQ=60,60;MPOS=17;NALOD=0.974;NLOD=2.41;POPAF=6;TLOD=4.66;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=WDTC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:10,0:0.097:10:3,0:5,0:8,0:3,7,0,0	0/1:7,3:0.333:10:3,2:2,0:5,2:2,5,1,2
chr1	27304988	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,9|9,5;DP=44;ECNT=1;GERMQ=40;MBQ=20,20;MFRL=147,174;MMQ=60,60;MPOS=18;NALOD=1.13;NLOD=3.59;POPAF=6;RPA=7,6;RU=C;STR;STRQ=93;TLOD=19.51;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=WDTC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs754633972;ExAC_ALL=5.618e-05;ExAC_AFR=0.0001;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.994e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.07:16:7,0:5,0:12,0:12,4,0,0	0/1:11,14:0.59:25:4,3:2,6:6,9:6,5,9,5
chr1	27306246	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=85,69|3,2;DP=164;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=154,174;MMQ=60,60;MPOS=51;NALOD=1.57;NLOD=10.79;POPAF=4.61;TLOD=7.43;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=WDTC1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=WDTC1:NM_001276252:exon16:c.C1897T:p.R633W,WDTC1:NM_015023:exon16:c.C1894T:p.R632W;cytoBand=1p36.11;SIFT_score=0.018;SIFT_converted_rankscore=0.507;SIFT_pred=D;SIFT4G_score=0.023;SIFT4G_converted_rankscore=0.571;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.93;Polyphen2_HVAR_rankscore=0.678;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.955;MutationAssessor_rankscore=0.529;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-3.64;PROVEAN_converted_rankscore=0.698;PROVEAN_pred=D;VEST4_score=0.785;VEST4_rankscore=0.782;MetaSVM_score=-0.531;MetaSVM_rankscore=0.675;MetaSVM_pred=T;MetaLR_score=0.290;MetaLR_rankscore=0.662;MetaLR_pred=T;MetaRNN_score=0.635;MetaRNN_rankscore=0.688;MetaRNN_pred=D;M-CAP_score=0.032;M-CAP_rankscore=0.541;M-CAP_pred=D;REVEL_score=0.352;REVEL_rankscore=0.677;MutPred_score=0.43;MutPred_rankscore=0.478;MVP_score=0.270;MVP_rankscore=0.266;MPC_score=2.034;MPC_rankscore=0.942;PrimateAI_score=0.872;PrimateAI_rankscore=0.928;PrimateAI_pred=D;DEOGEN2_score=0.560;DEOGEN2_rankscore=0.853;DEOGEN2_pred=D;BayesDel_addAF_score=0.286;BayesDel_addAF_rankscore=0.819;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.174;BayesDel_noAF_rankscore=0.816;BayesDel_noAF_pred=D;ClinPred_score=0.997;ClinPred_rankscore=0.908;ClinPred_pred=D;LIST-S2_score=0.992;LIST-S2_rankscore=0.974;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.084;CADD_raw_rankscore=0.815;CADD_phred=27.6;DANN_score=0.999;DANN_rankscore=0.988;fathmm-MKL_coding_score=0.899;fathmm-MKL_coding_rankscore=0.507;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.496;fathmm-XF_coding_rankscore=0.531;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.379;Eigen-raw_coding_rankscore=0.603;Eigen-PC-raw_coding=0.362;Eigen-PC-raw_coding_rankscore=0.592;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.463;integrated_fitCons_score=0.706;integrated_fitCons_rankscore=0.612;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.8;GERP++_RS=3.86;GERP++_RS_rankscore=0.437;phyloP100way_vertebrate=1.635;phyloP100way_vertebrate_rankscore=0.367;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=12.193;SiPhy_29way_logOdds_rankscore=0.536;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.981e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.354e-05;AF_afr=2.38e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs777436909;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.026:56:20,0:14,0:36,0:33,23,0,0	0/1:98,5:0.068:103:30,2:22,1:54,3:52,46,3,2
chr1	27330827	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,51|6,8;DP=120;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,132;MMQ=60,60;MPOS=34;NALOD=1.41;NLOD=7.5;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=12.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM222;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759790832;ExAC_ALL=1.648e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.998e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.037:44:11,0:11,0:25,0:21,23,0,0	0/1:50,14:0.235:64:14,3:8,3:28,8:22,28,6,8
chr1	27551942	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=70,47|12,9;DP=143;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,172;MMQ=60,60;MPOS=38;NALOD=1.71;NLOD=14.94;POPAF=6;TLOD=55.49;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AHDC1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=AHDC1:NM_001029882:exon6:c.C174T:p.S58S,AHDC1:NM_001371928:exon8:c.C174T:p.S58S;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759070023;ExAC_ALL=1.275e-05;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.019:62:17,0:22,0:50,0:38,24,0,0	0/1:55,21:0.303:76:12,10:17,4:36,15:32,23,12,9
chr1	27668195	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,25|5,5;DP=74;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=181,149;MMQ=60,60;MPOS=20;NALOD=1.41;NLOD=7.47;POPAF=6;TLOD=22.87;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=IFI6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.037:39:13,0:11,0:25,0:25,14,0,0	0/1:24,10:0.3:34:8,3:5,2:13,5:13,11,5,5
chr1	27734274	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=0,10|2,1;DP=14;ECNT=1;GERMQ=7;MBQ=37,20;MFRL=282,240;MMQ=60,60;MPOS=21;NALOD=0.954;NLOD=2.41;POPAF=3.57;TLOD=7.74;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FAM76A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0003;AF_afr=0.0003;AF_ami=0;AF_amr=0;AF_asj=0.0063;AF_eas=0;AF_fin=0;AF_nfe=3.098e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs558580818;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:8,0:0.1:8:4,0:4,0:8,0:0,8,0,0	0/1:2,3:0.5:5:1,2:0,0:2,2:0,2,2,1
chr1	27872533	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,26|9,8;DP=85;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=167,159;MMQ=60,60;MPOS=44;NALOD=1.29;NLOD=5.42;POPAF=6;TLOD=31.29;ANNOVAR_DATE=2020-06-08;Func.refGene=upstream;Gene.refGene=THEMIS2;GeneDetail.refGene=dist\x3d10;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.049:28:9,0:8,0:18,0:17,11,0,0	0/1:36,17:0.313:53:13,2:6,6:21,9:21,15,9,8
chr1	28459218	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,34|30,36;DP=159;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=159,148;MMQ=60,60;MPOS=39;NALOD=-0.4231;NLOD=3.94;POPAF=6;RPA=10,9;RU=A;STR;STRQ=93;TLOD=62.07;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PHACTR4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PHACTR4:NM_023923:exon2:c.181delA:p.S64Vfs*12,PHACTR4:NM_001048183:exon3:c.151delA:p.S54Vfs*12,PHACTR4:NM_001350158:exon4:c.175delA:p.S62Vfs*12,PHACTR4:NM_001350160:exon4:c.151delA:p.S54Vfs*12,PHACTR4:NM_001350161:exon4:c.103delA:p.S38Vfs*12,PHACTR4:NM_001350159:exon5:c.175delA:p.S62Vfs*12;cytoBand=1p35.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.249e-06;AF_raw=0.0002;AF_male=1.506e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.585e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs776090930;ExAC_ALL=0.0131;ExAC_AFR=0.0100;ExAC_AMR=0.0066;ExAC_EAS=0.0121;ExAC_FIN=0.0044;ExAC_NFE=0.0163;ExAC_OTH=0.0141;ExAC_SAS=0.0108;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,1:0.078:41:8,0:12,0:22,1:19,21,0,1	0/1:26,65:0.725:91:5,11:8,19:13,35:13,13,30,35
chr1	28473495	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,11|4,2;DP=43;ECNT=1;GERMQ=53;MBQ=20,20;MFRL=194,212;MMQ=60,60;MPOS=30;NALOD=1.18;NLOD=3.91;POPAF=6;TLOD=13.86;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PHACTR4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.062:18:6,0:7,0:13,0:13,5,0,0	0/1:14,6:0.333:20:5,4:4,0:9,4:8,6,4,2
chr1	28526898	.	GAAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,13|23,14;DP=70;ECNT=1;GERMQ=51;MBQ=20,20;MFRL=173,148;MMQ=60,60;MPOS=20;NALOD=0.609;NLOD=4.48;POPAF=3.18;RPA=15,12;RU=A;STR;STRQ=93;TLOD=34.95;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RCC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=8.377e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.058:24:8,0:5,0:15,0:13,11,0,0	0/1:4,37:0.903:41:2,8:0,15:2,23:2,2,23,14
chr1	28692993	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,45|3,3;DP=97;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=143,115;MMQ=60,60;MPOS=15;NALOD=1.42;NLOD=7.52;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=5.44;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GMEB1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GMEB1:NM_001319674:exon5:c.389delC:p.T131Lfs*2,GMEB1:NM_006582:exon5:c.419delC:p.T141Lfs*2,GMEB1:NM_024482:exon5:c.389delC:p.T131Lfs*2;cytoBand=1p35.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.037:38:15,0:5,0:25,0:17,21,0,0	0/1:48,6:0.133:54:11,3:13,0:25,3:24,24,3,3
chr1	29200485	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,23|14,11;DP=77;ECNT=1;GERMQ=28;MBQ=20,20;MFRL=157,167;MMQ=60,60;MPOS=35;NALOD=1.23;NLOD=4.82;POPAF=3.83;TLOD=56.45;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MECR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=9.478e-05;AF_afr=0.0004;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs367854119;ExAC_ALL=5.062e-05;ExAC_AFR=0.0004;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.056:27:7,0:9,0:16,0:15,12,0,0	0/1:25,25:0.5:50:10,10:4,4:14,14:14,11,14,11
chr1	31410367	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,34|14,12;DP=99;ECNT=1;GERMQ=70;MBQ=20,20;MFRL=177,144;MMQ=60,60;MPOS=25;NALOD=1.26;NLOD=5.12;POPAF=6;TLOD=58.3;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=SERINC2;GeneDetail.refGene=NM_001199037:c.-18C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:26,0:0.053:26:7,0:10,0:17,0:15,11,0,0	0/1:47,26:0.366:73:6,5:19,9:25,14:24,23,14,12
chr1	31633308	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=71,76|9,9;DP=169;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,179;MMQ=60,60;MPOS=23;NALOD=1.64;NLOD=12.64;POPAF=6;TLOD=34.62;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PEF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PEF1:NM_001359651:exon3:c.C122T:p.A41V,PEF1:NM_012392:exon3:c.C332T:p.A111V;cytoBand=1p35.2;SIFT_score=0.811;SIFT_converted_rankscore=0.030;SIFT_pred=T;SIFT4G_score=0.622;SIFT4G_converted_rankscore=0.074;SIFT4G_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.044;Polyphen2_HVAR_pred=B;LRT_score=0.021;LRT_converted_rankscore=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.43;MutationAssessor_rankscore=0.126;MutationAssessor_pred=N;FATHMM_score=-1.96;FATHMM_converted_rankscore=0.851;FATHMM_pred=D;PROVEAN_score=-0.49;PROVEAN_converted_rankscore=0.156;PROVEAN_pred=N;VEST4_score=0.107;VEST4_rankscore=0.092;MetaSVM_score=-0.747;MetaSVM_rankscore=0.581;MetaSVM_pred=T;MetaLR_score=0.302;MetaLR_rankscore=0.673;MetaLR_pred=T;MetaRNN_score=0.023;MetaRNN_rankscore=0.006;MetaRNN_pred=T;M-CAP_score=0.025;M-CAP_rankscore=0.479;M-CAP_pred=T;REVEL_score=0.248;REVEL_rankscore=0.560;MutPred_score=0.194;MutPred_rankscore=0.106;MVP_score=0.484;MVP_rankscore=0.480;MPC_score=0.230;MPC_rankscore=0.256;PrimateAI_score=0.244;PrimateAI_rankscore=0.031;PrimateAI_pred=T;DEOGEN2_score=0.039;DEOGEN2_rankscore=0.251;DEOGEN2_pred=T;BayesDel_addAF_score=-0.169;BayesDel_addAF_rankscore=0.255;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.480;BayesDel_noAF_rankscore=0.245;BayesDel_noAF_pred=T;ClinPred_score=0.046;ClinPred_rankscore=0.048;ClinPred_pred=T;LIST-S2_score=0.289;LIST-S2_rankscore=0.052;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=0.160;CADD_raw_rankscore=0.056;CADD_phred=2.684;DANN_score=0.888;DANN_rankscore=0.182;fathmm-MKL_coding_score=0.069;fathmm-MKL_coding_rankscore=0.130;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.066;fathmm-XF_coding_rankscore=0.128;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.500;Eigen-raw_coding_rankscore=0.018;Eigen-PC-raw_coding=-1.514;Eigen-PC-raw_coding_rankscore=0.022;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.719;integrated_fitCons_rankscore=0.831;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.46;GERP++_RS=-6.6;GERP++_RS_rankscore=0.017;phyloP100way_vertebrate=0.283;phyloP100way_vertebrate_rankscore=0.186;phyloP30way_mammalian=-0.216;phyloP30way_mammalian_rankscore=0.093;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.308;phastCons30way_mammalian_rankscore=0.242;SiPhy_29way_logOdds=15.162;SiPhy_29way_logOdds_rankscore=0.725;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:69,0:0.023:69:23,0:16,0:42,0:32,37,0,0	0/1:78,18:0.203:96:19,4:21,6:42,10:39,39,9,9
chr1	31654047	.	T	TA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,37|6,8;DP=93;ECNT=1;GERMQ=70;MBQ=20,20;MFRL=163,161;MMQ=60,60;MPOS=45;NALOD=1.31;NLOD=5.4;POPAF=6;RPA=7,8;RU=A;STR;STRQ=93;TLOD=11.81;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL16A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.988e-06;AF_raw=6.977e-06;AF_male=0;AF_female=1.356e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.55e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs780994374;ExAC_ALL=8.475e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.63e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.047:27:5,0:6,0:18,0:9,18,0,0	0/1:34,14:0.307:48:6,2:10,4:19,8:15,19,6,8
chr1	31656952	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,28|12,5;DP=87;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=166,197;MMQ=60,60;MPOS=24;NALOD=1.37;NLOD=6.54;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=24.88;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL16A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.041:38:12,0:10,0:22,0:21,17,0,0	0/1:26,17:0.464:43:7,8:7,4:15,13:15,11,12,5
chr1	32275174	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,20|1,2;DP=39;ECNT=1;GERMQ=68;MBQ=25,20;MFRL=226,155;MMQ=60,60;MPOS=25;NALOD=1.34;NLOD=6.32;POPAF=4.61;TLOD=9.21;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LCK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.975e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.043:23:6,0:7,0:21,0:9,14,0,0	0/1:13,3:0.231:16:1,1:5,0:9,2:7,6,1,2
chr1	32363633	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,35|14,10;DP=113;ECNT=1;GERMQ=81;MBQ=20,20;MFRL=154,175;MMQ=60,60;MPOS=47;NALOD=1.35;NLOD=6.32;POPAF=4.61;TLOD=51.22;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TSSK3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TSSK3:NM_052841:exon2:c.G184A:p.V62I;cytoBand=1p35.2;SIFT_score=0.296;SIFT_converted_rankscore=0.147;SIFT_pred=T;SIFT4G_score=0.321;SIFT4G_converted_rankscore=0.191;SIFT4G_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_rankscore=0.219;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.014;Polyphen2_HVAR_rankscore=0.169;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.429;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=0.155;MutationAssessor_rankscore=0.089;MutationAssessor_pred=N;FATHMM_score=1.9;FATHMM_converted_rankscore=0.235;FATHMM_pred=T;PROVEAN_score=0.23;PROVEAN_converted_rankscore=0.046;PROVEAN_pred=N;VEST4_score=0.112;VEST4_rankscore=0.099;MetaSVM_score=-1.084;MetaSVM_rankscore=0.066;MetaSVM_pred=T;MetaLR_score=0.035;MetaLR_rankscore=0.149;MetaLR_pred=T;MetaRNN_score=0.038;MetaRNN_rankscore=0.022;MetaRNN_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.099;M-CAP_pred=T;REVEL_score=0.058;REVEL_rankscore=0.170;MutPred_score=0.613;MutPred_rankscore=0.746;MVP_score=0.068;MVP_rankscore=0.061;MPC_score=0.054;MPC_rankscore=0.059;PrimateAI_score=0.352;PrimateAI_rankscore=0.182;PrimateAI_pred=T;DEOGEN2_score=0.017;DEOGEN2_rankscore=0.137;DEOGEN2_pred=T;BayesDel_addAF_score=-0.565;BayesDel_addAF_rankscore=0.002;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.750;BayesDel_noAF_rankscore=0.035;BayesDel_noAF_pred=T;ClinPred_score=0.026;ClinPred_rankscore=0.014;ClinPred_pred=T;LIST-S2_score=0.446;LIST-S2_rankscore=0.125;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=0.862;CADD_raw_rankscore=0.133;CADD_phred=10.03;DANN_score=0.952;DANN_rankscore=0.263;fathmm-MKL_coding_score=0.234;fathmm-MKL_coding_rankscore=0.221;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.096;fathmm-XF_coding_rankscore=0.195;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.640;Eigen-raw_coding_rankscore=0.177;Eigen-PC-raw_coding=-0.517;Eigen-PC-raw_coding_rankscore=0.217;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.467;integrated_fitCons_score=0.563;integrated_fitCons_rankscore=0.315;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.42;GERP++_RS=3.44;GERP++_RS_rankscore=0.385;phyloP100way_vertebrate=-0.067;phyloP100way_vertebrate_rankscore=0.115;phyloP30way_mammalian=0.225;phyloP30way_mammalian_rankscore=0.250;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.138;phastCons30way_mammalian=0.915;phastCons30way_mammalian_rankscore=0.386;SiPhy_29way_logOdds=5.876;SiPhy_29way_logOdds_rankscore=0.181;Interpro_domain=Protein_kinase_domain|Protein_kinase_domain|Protein_kinase_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.189e-05;AF_raw=4.185e-05;AF_male=2.881e-05;AF_female=5.42e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=4.647e-05;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs761898308;ExAC_ALL=5.775e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0004;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.043:29:11,0:10,0:21,0:19,10,0,0	0/1:55,24:0.3:79:17,7:13,7:34,14:30,25,14,10
chr1	32621966	.	GAAAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,16|4,7;DP=55;ECNT=1;GERMQ=8;MBQ=20,20;MFRL=198,173;MMQ=60,60;MPOS=38;NALOD=0.557;NLOD=4.49;POPAF=3.16;RPA=16,12;RU=A;STR;STRQ=93;TLOD=10.41;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZBTB8OS;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0013;AF_raw=0.0011;AF_male=0.0012;AF_female=0.0013;AF_afr=0.0036;AF_ami=0;AF_amr=0.0005;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.228e-05;AF_oth=0.0010;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.057:21:5,0:3,0:15,0:9,12,0,0	0/1:7,11:0.62:18:4,5:1,0:5,7:3,4,4,7
chr1	32776145	.	A	AC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,30|2,4;DP=56;ECNT=1;GERMQ=67;MBQ=20,20;MFRL=202,156;MMQ=60,60;MPOS=33;NALOD=1.05;NLOD=5.98;POPAF=6;RPA=7,8;RU=C;STR;STRQ=93;TLOD=6.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=YARS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.045:28:6,0:7,0:20,0:8,20,0,0	0/1:15,6:0.31:21:3,1:3,1:10,4:5,10,2,4
chr1	32898322	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,49|2,2;DP=93;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,176;MMQ=60,60;MPOS=29;NALOD=1.32;NLOD=6.02;POPAF=6;TLOD=5.59;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM54;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.045:30:9,0:11,0:20,0:12,18,0,0	0/1:57,4:0.083:61:17,2:13,0:32,2:26,31,2,2
chr1	33327433	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,78|25,23;DP=202;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,163;MMQ=60,60;MPOS=24;NALOD=1.65;NLOD=12.94;POPAF=4.61;TLOD=101.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PHC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.983e-06;AF_raw=6.976e-06;AF_male=0;AF_female=1.355e-05;AF_afr=2.381e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.022:73:24,0:16,0:43,0:35,38,0,0	0/1:77,48:0.408:125:20,14:19,13:41,28:37,40,25,23
chr1	33605906	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,43|10,10;DP=111;ECNT=1;GERMQ=67;MBQ=20,20;MFRL=153,146;MMQ=60,60;MPOS=34;NALOD=1.28;NLOD=5.42;POPAF=3.46;TLOD=38.5;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CSMD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CSMD2:NM_052896:exon42:c.C6306T:p.P2102P;cytoBand=1p35.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0003;AF_female=0.0004;AF_afr=0.0012;AF_ami=0;AF_amr=7.325e-05;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs139440321;ExAC_ALL=0.0001;ExAC_AFR=0.0013;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.036e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.05:34:10,0:7,0:18,0:17,17,0,0	0/1:54,20:0.264:74:16,5:10,5:30,10:28,26,10,10
chr1	34208128	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=56,48|1,1;DP=112;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,140;MMQ=60,60;MPOS=44;NALOD=1.45;NLOD=8.13;POPAF=6;TLOD=6.01;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=C1orf94;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p35.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.034:48:15,0:12,0:27,0:27,21,0,0	0/1:56,2:0.061:58:9,0:20,1:29,1:29,27,1,1
chr1	34904675	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=97,99|25,23;DP=246;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,165;MMQ=60,60;MPOS=43;NALOD=-1.134;NLOD=13.36;POPAF=6;TLOD=100.16;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DLGAP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLGAP3:NM_001080418:exon3:c.C709T:p.R237W;cytoBand=1p34.3;SIFT_score=0.002;SIFT_converted_rankscore=0.722;SIFT_pred=D;SIFT4G_score=0.002;SIFT4G_converted_rankscore=0.794;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.948;Polyphen2_HVAR_rankscore=0.685;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=0;MutationAssessor_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=1.59;FATHMM_converted_rankscore=0.288;FATHMM_pred=T;PROVEAN_score=-4.31;PROVEAN_converted_rankscore=0.766;PROVEAN_pred=D;VEST4_score=0.615;VEST4_rankscore=0.734;MetaSVM_score=-0.933;MetaSVM_rankscore=0.437;MetaSVM_pred=T;MetaLR_score=0.087;MetaLR_rankscore=0.337;MetaLR_pred=T;MetaRNN_score=0.661;MetaRNN_rankscore=0.701;MetaRNN_pred=D;M-CAP_score=0.056;M-CAP_rankscore=0.663;M-CAP_pred=D;REVEL_score=0.169;REVEL_rankscore=0.436;MutPred_score=0.239;MutPred_rankscore=0.171;MVP_score=0.482;MVP_rankscore=0.478;MPC_score=1.593;MPC_rankscore=0.886;PrimateAI_score=0.751;PrimateAI_rankscore=0.746;PrimateAI_pred=T;DEOGEN2_score=0.571;DEOGEN2_rankscore=0.858;DEOGEN2_pred=D;BayesDel_addAF_score=-0.155;BayesDel_addAF_rankscore=0.276;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.291;BayesDel_noAF_rankscore=0.457;BayesDel_noAF_pred=T;ClinPred_score=0.883;ClinPred_rankscore=0.533;ClinPred_pred=D;LIST-S2_score=0.951;LIST-S2_rankscore=0.812;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.004;CADD_raw_rankscore=0.788;CADD_phred=27.0;DANN_score=0.999;DANN_rankscore=0.985;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.572;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.796;fathmm-XF_coding_rankscore=0.723;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.285;Eigen-raw_coding_rankscore=0.554;Eigen-PC-raw_coding=0.306;Eigen-PC-raw_coding_rankscore=0.559;GenoCanyon_score=0.429;GenoCanyon_rankscore=0.204;integrated_fitCons_score=0.615;integrated_fitCons_rankscore=0.376;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.72;GERP++_RS=3.8;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=3.899;phyloP100way_vertebrate_rankscore=0.560;phyloP30way_mammalian=0.186;phyloP30way_mammalian_rankscore=0.217;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.999;phastCons30way_mammalian_rankscore=0.704;SiPhy_29way_logOdds=14.545;SiPhy_29way_logOdds_rankscore=0.676;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=7.322e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs762679901;ExAC_ALL=8.239e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:97,2:0.032:99:30,1:22,0:59,1:50,47,1,1	0/1:99,46:0.326:145:26,11:19,12:59,28:47,52,24,22
chr1	35019310	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,65|26,25;DP=207;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,164;MMQ=60,60;MPOS=39;NALOD=1.64;NLOD=12.45;POPAF=6;RPA=8,7;RU=A;STR;STRQ=93;TLOD=38.31;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZMYM6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.4e-05;AF_raw=2.793e-05;AF_male=0;AF_female=2.715e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.102e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs771855851;ExAC_ALL=7.594e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.102e-05;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.022:62:23,0:12,0:42,0:34,28,0,0	0/1:80,51:0.367:131:15,13:28,13:45,26:43,37,26,25
chr1	35189138	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,36|12,9;DP=115;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=182,176;MMQ=60,60;MPOS=20;NALOD=1.6;NLOD=11.43;POPAF=6;RPA=5,4;RU=A;STR;STRQ=93;TLOD=71.02;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SFPQ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:50,0:0.025:50:14,0:20,0:38,0:0|1:35189138_GA_G:35189138:32,18,0,0	0|1:39,21:0.372:60:12,3:10,9:26,15:0|1:35189138_GA_G:35189138:21,18,12,9
chr1	35189143	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,36|13,9;DP=113;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=182,176;MMQ=60,60;MPOS=24;NALOD=1.6;NLOD=11.43;POPAF=6;TLOD=74.26;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SFPQ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:50,0:0.025:50:14,0:18,0:38,0:0|1:35189138_GA_G:35189138:32,18,0,0	0|1:39,22:0.386:61:12,4:11,9:26,16:0|1:35189138_GA_G:35189138:21,18,13,9
chr1	35361172	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,18|17,17;DP=73;ECNT=1;GERMQ=50;MBQ=20,20;MFRL=171,145;MMQ=60,60;MPOS=51;NALOD=0.115;NLOD=4.43;POPAF=2.61;RPA=10,9;RU=T;STR;STRQ=93;TLOD=29.41;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=ZMYM4-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0020;AF_raw=0.0020;AF_male=0.0020;AF_female=0.0020;AF_afr=0.0052;AF_ami=0;AF_amr=0.0012;AF_asj=0;AF_eas=0;AF_fin=0.0030;AF_nfe=0.0002;AF_oth=0.0015;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs751039982;ExAC_ALL=0.0218;ExAC_AFR=0.0208;ExAC_AMR=0.0125;ExAC_EAS=0.0159;ExAC_FIN=0.0102;ExAC_NFE=0.0281;ExAC_OTH=0.0202;ExAC_SAS=0.0123;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,2:0.079:35:11,0:7,1:21,1:18,15,1,1	0/1:6,32:0.814:38:1,5:2,11:3,16:3,3,16,16
chr1	35414092	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,15|5,5;DP=46;ECNT=1;GERMQ=4;MBQ=20,20;MFRL=163,149;MMQ=60,60;MPOS=51;NALOD=1.06;NLOD=2.98;POPAF=2.66;RPA=10,9;RU=T;STR;STRQ=3;TLOD=6.91;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZMYM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0005;AF_male=0.0003;AF_female=0.0001;AF_afr=0.0004;AF_ami=0;AF_amr=7.505e-05;AF_asj=0;AF_eas=0.0010;AF_fin=0;AF_nfe=0.0001;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs774735925;ExAC_ALL=0.0136;ExAC_AFR=0.0093;ExAC_AMR=0.0094;ExAC_EAS=0.0132;ExAC_FIN=0.0028;ExAC_NFE=0.0167;ExAC_OTH=0.0130;ExAC_SAS=0.0120;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:17,0:0.081:17:2,0:5,0:10,0:7,10,0,0	0/1:10,10:0.501:20:1,3:4,2:5,5:5,5,5,5
chr1	35762001	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,54|18,16;DP=144;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,154;MMQ=60,60;MPOS=38;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=70.23;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CLSPN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=CLSPN:NM_001190481:exon6:c.C892T:p.R298X,CLSPN:NM_001330490:exon6:c.C892T:p.R298X,CLSPN:NM_022111:exon6:c.C892T:p.R298X;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.944;VEST4_rankscore=0.951;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.510;BayesDel_addAF_rankscore=0.946;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.495;BayesDel_noAF_rankscore=0.945;BayesDel_noAF_pred=D;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3bRecessive\x3b.\x3b.\x3b;Aloft_Confidence=.\x3bHigh\x3b.\x3b.\x3b;CADD_raw=6.824;CADD_raw_rankscore=0.968;CADD_phred=36;DANN_score=0.997;DANN_rankscore=0.839;fathmm-MKL_coding_score=0.603;fathmm-MKL_coding_rankscore=0.311;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.125;fathmm-XF_coding_rankscore=0.242;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.828;Eigen-raw_coding_rankscore=0.878;Eigen-PC-raw_coding=0.709;Eigen-PC-raw_coding_rankscore=0.831;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.731;integrated_fitCons_rankscore=0.879;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.39;GERP++_RS=5.39;GERP++_RS_rankscore=0.776;phyloP100way_vertebrate=3.999;phyloP100way_vertebrate_rankscore=0.567;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.999;phastCons30way_mammalian_rankscore=0.704;SiPhy_29way_logOdds=14.039;SiPhy_29way_logOdds_rankscore=0.642;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.981e-06;AF_raw=6.975e-06;AF_male=1.441e-05;AF_female=0;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs912700256;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:45,0:0.03:45:13,0:13,0:31,0:23,22,0,0	0/1:63,34:0.361:97:15,7:17,11:34,19:31,32,18,16
chr1	35901538	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,59|4,4;DP=134;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=145,152;MMQ=60,60;MPOS=25;NALOD=1.47;NLOD=8.43;POPAF=6;TLOD=12.98;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AGO1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AGO1:NM_001317123:exon9:c.T860C:p.M287T,AGO1:NM_012199:exon9:c.T1085C:p.M362T;cytoBand=1p34.3;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.863;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.85;MutationAssessor_rankscore=0.958;MutationAssessor_pred=H;FATHMM_score=2.48;FATHMM_converted_rankscore=0.147;FATHMM_pred=T;PROVEAN_score=-5.18;PROVEAN_converted_rankscore=0.846;PROVEAN_pred=D;VEST4_score=0.903;VEST4_rankscore=0.921;MetaSVM_score=-0.834;MetaSVM_rankscore=0.530;MetaSVM_pred=T;MetaLR_score=0.137;MetaLR_rankscore=0.453;MetaLR_pred=T;MetaRNN_score=0.894;MetaRNN_rankscore=0.887;MetaRNN_pred=D;M-CAP_score=0.043;M-CAP_rankscore=0.609;M-CAP_pred=D;REVEL_score=0.622;REVEL_rankscore=0.855;MutPred_score=0.691;MutPred_rankscore=0.828;MVP_score=0.867;MVP_rankscore=0.866;MPC_score=3.010;MPC_rankscore=0.992;PrimateAI_score=0.912;PrimateAI_rankscore=0.977;PrimateAI_pred=D;DEOGEN2_score=0.418;DEOGEN2_rankscore=0.770;DEOGEN2_pred=T;BayesDel_addAF_score=0.271;BayesDel_addAF_rankscore=0.805;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.151;BayesDel_noAF_rankscore=0.802;BayesDel_noAF_pred=D;ClinPred_score=0.998;ClinPred_rankscore=0.941;ClinPred_pred=D;LIST-S2_score=0.995;LIST-S2_rankscore=0.982;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.890;CADD_raw_rankscore=0.750;CADD_phred=26.3;DANN_score=0.994;DANN_rankscore=0.626;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.923;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.856;fathmm-XF_coding_rankscore=0.774;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.929;Eigen-raw_coding_rankscore=0.931;Eigen-PC-raw_coding=0.889;Eigen-PC-raw_coding_rankscore=0.951;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.95;GERP++_RS=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=8.017;phyloP100way_vertebrate_rankscore=0.887;phyloP30way_mammalian=1.138;phyloP30way_mammalian_rankscore=0.647;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=16.424;SiPhy_29way_logOdds_rankscore=0.836;Interpro_domain=PAZ_domain|PAZ_domain\x3bPAZ_domain|PAZ_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.033:46:15,0:11,0:28,0:23,23,0,0	0/1:74,8:0.108:82:20,1:20,3:40,4:38,36,4,4
chr1	36176502	.	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,41|3,3;DP=84;ECNT=1;GERMQ=93;MBQ=20,36;MFRL=157,68;MMQ=60,60;MPOS=28;NALOD=1.35;NLOD=6.32;POPAF=6;TLOD=11.66;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MAP7D1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MAP7D1:NM_001286365:exon6:c.C1043G:p.A348G,MAP7D1:NM_018067:exon7:c.C1154G:p.A385G,MAP7D1:NM_001286366:exon8:c.C1058G:p.A353G;cytoBand=1p34.3;SIFT_score=0.021;SIFT_converted_rankscore=0.599;SIFT_pred=D;SIFT4G_score=0.257;SIFT4G_converted_rankscore=0.232;SIFT4G_pred=T;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.458;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.359;Polyphen2_HVAR_pred=B;LRT_score=0.624;LRT_converted_rankscore=0.107;LRT_pred=N;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.247;MutationTaster_pred=N;MutationAssessor_score=1.39;MutationAssessor_rankscore=0.349;MutationAssessor_pred=L;FATHMM_score=3.52;FATHMM_converted_rankscore=0.086;FATHMM_pred=T;PROVEAN_score=-0.97;PROVEAN_converted_rankscore=0.314;PROVEAN_pred=N;VEST4_score=0.119;VEST4_rankscore=0.131;MetaSVM_score=-0.998;MetaSVM_rankscore=0.304;MetaSVM_pred=T;MetaLR_score=0.018;MetaLR_rankscore=0.076;MetaLR_pred=T;MetaRNN_score=0.052;MetaRNN_rankscore=0.052;MetaRNN_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.472;M-CAP_pred=T;REVEL_score=0.075;REVEL_rankscore=0.223;MutPred_score=0.168;MutPred_rankscore=0.073;MVP_score=0.068;MVP_rankscore=0.061;MPC_score=1.221;MPC_rankscore=0.811;PrimateAI_score=0.834;PrimateAI_rankscore=0.872;PrimateAI_pred=D;DEOGEN2_score=0.013;DEOGEN2_rankscore=0.111;DEOGEN2_pred=T;BayesDel_addAF_score=-0.274;BayesDel_addAF_rankscore=0.113;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.632;BayesDel_noAF_rankscore=0.103;BayesDel_noAF_pred=T;ClinPred_score=0.500;ClinPred_rankscore=0.326;ClinPred_pred=T;LIST-S2_score=0.640;LIST-S2_rankscore=0.253;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=1.488;CADD_raw_rankscore=0.217;CADD_phred=15.66;DANN_score=0.993;DANN_rankscore=0.586;fathmm-MKL_coding_score=0.421;fathmm-MKL_coding_rankscore=0.268;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.115;fathmm-XF_coding_rankscore=0.226;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.339;Eigen-raw_coding_rankscore=0.277;Eigen-PC-raw_coding=-0.308;Eigen-PC-raw_coding_rankscore=0.278;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.685;integrated_fitCons_rankscore=0.555;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.12;GERP++_RS=4.19;GERP++_RS_rankscore=0.486;phyloP100way_vertebrate=1.488;phyloP100way_vertebrate_rankscore=0.352;phyloP30way_mammalian=-0.385;phyloP30way_mammalian_rankscore=0.065;phastCons100way_vertebrate=0.017;phastCons100way_vertebrate_rankscore=0.194;phastCons30way_mammalian=0.645;phastCons30way_mammalian_rankscore=0.298;SiPhy_29way_logOdds=12.581;SiPhy_29way_logOdds_rankscore=0.557;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.043:33:7,0:8,0:21,0:13,20,0,0	0/1:42,6:0.107:48:12,0:9,2:24,2:21,21,3,3
chr1	36286453	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=66,60|23,18;DP=176;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,151;MMQ=60,60;MPOS=35;NALOD=1.68;NLOD=13.85;POPAF=6;TLOD=91.71;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=THRAP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=THRAP3:NM_001321473:exon4:c.G223T:p.G75C,THRAP3:NM_005119:exon4:c.G223T:p.G75C,THRAP3:NM_001321471:exon5:c.G223T:p.G75C;cytoBand=1p34.3;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.002;SIFT4G_converted_rankscore=0.794;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_rankscore=0.748;MutationAssessor_pred=M;FATHMM_score=2.05;FATHMM_converted_rankscore=0.207;FATHMM_pred=T;PROVEAN_score=-2.45;PROVEAN_converted_rankscore=0.536;PROVEAN_pred=N;VEST4_score=0.893;VEST4_rankscore=0.899;MetaSVM_score=-0.998;MetaSVM_rankscore=0.306;MetaSVM_pred=T;MetaLR_score=0.137;MetaLR_rankscore=0.453;MetaLR_pred=T;MetaRNN_score=0.682;MetaRNN_rankscore=0.713;MetaRNN_pred=D;M-CAP_score=0.021;M-CAP_rankscore=0.435;M-CAP_pred=T;REVEL_score=0.301;REVEL_rankscore=0.625;MutPred_score=0.447;MutPred_rankscore=0.506;MVP_score=0.372;MVP_rankscore=0.368;MPC_score=0.463;MPC_rankscore=0.458;PrimateAI_score=0.867;PrimateAI_rankscore=0.921;PrimateAI_pred=D;DEOGEN2_score=0.516;DEOGEN2_rankscore=0.830;DEOGEN2_pred=D;BayesDel_addAF_score=0.223;BayesDel_addAF_rankscore=0.760;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.082;BayesDel_noAF_rankscore=0.757;BayesDel_noAF_pred=D;ClinPred_score=0.975;ClinPred_rankscore=0.707;ClinPred_pred=D;LIST-S2_score=0.957;LIST-S2_rankscore=0.836;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=4.210;CADD_raw_rankscore=0.858;CADD_phred=28.8;DANN_score=0.990;DANN_rankscore=0.501;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.832;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.861;fathmm-XF_coding_rankscore=0.779;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.793;Eigen-raw_coding_rankscore=0.856;Eigen-PC-raw_coding=0.789;Eigen-PC-raw_coding_rankscore=0.890;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.61;GERP++_RS=5.61;GERP++_RS_rankscore=0.853;phyloP100way_vertebrate=9.270;phyloP100way_vertebrate_rankscore=0.949;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=18.989;SiPhy_29way_logOdds_rankscore=0.928;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.02:73:20,0:23,0:46,0:41,32,0,0	0/1:53,41:0.429:94:14,13:15,10:31,23:25,28,23,18
chr1	36475619	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,74|19,17;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,122;MMQ=60,60;MPOS=29;NALOD=1.71;NLOD=14.73;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=37.6;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CSF3R;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CSF3R:NM_000760:exon4:c.118delG:p.D40Ifs*64,CSF3R:NM_156039:exon4:c.118delG:p.D40Ifs*64,CSF3R:NM_172313:exon4:c.118delG:p.D40Ifs*64;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:77,0:0.019:77:21,0:18,0:49,0:36,41,0,0	0/1:66,36:0.347:102:14,10:19,9:39,20:33,33,19,17
chr1	36841792	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=66,73|9,10;DP=160;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,135;MMQ=60,60;MPOS=35;NALOD=1.68;NLOD=14.1;POPAF=6;TLOD=40.73;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GRIK3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GRIK3:NM_000831:exon10:c.G1474A:p.G492R;cytoBand=1p34.3;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.2;MutationAssessor_rankscore=0.978;MutationAssessor_pred=H;FATHMM_score=-3.16;FATHMM_converted_rankscore=0.930;FATHMM_pred=D;PROVEAN_score=-7.34;PROVEAN_converted_rankscore=0.946;PROVEAN_pred=D;VEST4_score=0.986;VEST4_rankscore=0.995;MetaSVM_score=1.106;MetaSVM_rankscore=0.998;MetaSVM_pred=D;MetaLR_score=0.941;MetaLR_rankscore=0.981;MetaLR_pred=D;MetaRNN_score=0.972;MetaRNN_rankscore=0.968;MetaRNN_pred=D;M-CAP_score=0.560;M-CAP_rankscore=0.960;M-CAP_pred=D;REVEL_score=0.941;REVEL_rankscore=0.988;MutPred_score=0.769;MutPred_rankscore=0.896;MVP_score=0.985;MVP_rankscore=0.985;MPC_score=1.831;MPC_rankscore=0.920;PrimateAI_score=0.824;PrimateAI_rankscore=0.857;PrimateAI_pred=D;DEOGEN2_score=0.637;DEOGEN2_rankscore=0.888;DEOGEN2_pred=D;BayesDel_addAF_score=0.527;BayesDel_addAF_rankscore=0.951;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.519;BayesDel_noAF_rankscore=0.950;BayesDel_noAF_pred=D;ClinPred_score=0.999;ClinPred_rankscore=0.972;ClinPred_pred=D;LIST-S2_score=0.999;LIST-S2_rankscore=0.998;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.891;CADD_raw_rankscore=0.750;CADD_phred=26.3;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.777;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.949;fathmm-XF_coding_rankscore=0.962;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.922;Eigen-raw_coding_rankscore=0.928;Eigen-PC-raw_coding=0.771;Eigen-PC-raw_coding_rankscore=0.877;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.741;integrated_fitCons_rankscore=0.978;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.86;GERP++_RS=4.86;GERP++_RS_rankscore=0.626;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.865;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.994;phastCons30way_mammalian_rankscore=0.563;SiPhy_29way_logOdds=18.361;SiPhy_29way_logOdds_rankscore=0.903;Interpro_domain=Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain|Ionotropic_glutamate_receptor|Ionotropic_glutamate_receptor,_L-glutamate_and_glycine-binding_domain\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:74,0:0.02:74:22,0:22,0:47,0:36,38,0,0	0/1:65,19:0.229:84:18,5:17,4:36,10:30,35,9,10
chr1	37483375	COSV66104118	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,63|2,2;DP=126;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,136;MMQ=60,60;MPOS=27;NALOD=1.54;NLOD=10.23;POPAF=6;TLOD=5.16;AA=p.P522S;CDS=c.1564C>T;CNT=1;GENE=ZC3H12A;HGVSC=ENST00000373087.6:c.1564C>T;HGVSG=1:g.37483375C>T;HGVSP=ENSP00000362179.5:p.Pro522Ser;LEGACY_ID=COSM6825574;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ZC3H12A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ZC3H12A:NM_001323550:exon6:c.C1564T:p.P522S,ZC3H12A:NM_001323551:exon6:c.C742T:p.P248S,ZC3H12A:NM_025079:exon6:c.C1564T:p.P522S;cytoBand=1p34.3;SIFT_score=0.34;SIFT_converted_rankscore=0.127;SIFT_pred=T;SIFT4G_score=0.124;SIFT4G_converted_rankscore=0.355;SIFT4G_pred=T;Polyphen2_HDIV_score=0.808;Polyphen2_HDIV_rankscore=0.453;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.373;Polyphen2_HVAR_rankscore=0.436;Polyphen2_HVAR_pred=B;LRT_score=0.440;LRT_converted_rankscore=0.126;LRT_pred=N;MutationTaster_score=0.617;MutationTaster_converted_rankscore=0.308;MutationTaster_pred=N;MutationAssessor_score=2.595;MutationAssessor_rankscore=0.759;MutationAssessor_pred=M;FATHMM_score=1.97;FATHMM_converted_rankscore=0.221;FATHMM_pred=T;PROVEAN_score=-1.73;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST4_score=0.331;VEST4_rankscore=0.372;MetaSVM_score=-0.926;MetaSVM_rankscore=0.447;MetaSVM_pred=T;MetaLR_score=0.130;MetaLR_rankscore=0.440;MetaLR_pred=T;MetaRNN_score=0.193;MetaRNN_rankscore=0.350;MetaRNN_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.379;M-CAP_pred=T;REVEL_score=0.063;REVEL_rankscore=0.186;MutPred_score=0.257;MutPred_rankscore=0.198;MVP_score=0.268;MVP_rankscore=0.264;MPC_score=0.774;MPC_rankscore=0.649;PrimateAI_score=0.655;PrimateAI_rankscore=0.607;PrimateAI_pred=T;DEOGEN2_score=0.133;DEOGEN2_rankscore=0.463;DEOGEN2_pred=T;BayesDel_addAF_score=-0.168;BayesDel_addAF_rankscore=0.255;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.479;BayesDel_noAF_rankscore=0.245;BayesDel_noAF_pred=T;ClinPred_score=0.546;ClinPred_rankscore=0.343;ClinPred_pred=D;LIST-S2_score=0.789;LIST-S2_rankscore=0.429;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.722;CADD_raw_rankscore=0.254;CADD_phred=17.17;DANN_score=0.999;DANN_rankscore=0.967;fathmm-MKL_coding_score=0.928;fathmm-MKL_coding_rankscore=0.567;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.287;fathmm-XF_coding_rankscore=0.400;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.392;Eigen-raw_coding_rankscore=0.610;Eigen-PC-raw_coding=0.399;Eigen-PC-raw_coding_rankscore=0.615;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.632;integrated_fitCons_rankscore=0.410;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.04;GERP++_RS=5.04;GERP++_RS_rankscore=0.673;phyloP100way_vertebrate=0.838;phyloP100way_vertebrate_rankscore=0.272;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.106;phastCons100way_vertebrate_rankscore=0.229;phastCons30way_mammalian=0.668;phastCons30way_mammalian_rankscore=0.302;SiPhy_29way_logOdds=18.386;SiPhy_29way_logOdds_rankscore=0.904;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:52,0:0.028:52:17,0:15,0:34,0:27,25,0,0	0/1:64,4:0.069:68:22,0:14,2:39,2:26,38,2,2
chr1	37494170	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,23|8,11;DP=69;ECNT=1;GERMQ=31;MBQ=20,20;MFRL=175,167;MMQ=60,60;MPOS=40;NALOD=1.32;NLOD=5.36;POPAF=3.12;RPA=10,9;RU=A;STR;STRQ=62;TLOD=20.99;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MEAF6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.111e-05;AF_raw=0.0001;AF_male=4.417e-05;AF_female=9.628e-05;AF_afr=7.256e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0.0001;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1021366340;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.047:29:6,0:7,0:18,0:12,17,0,0	0/1:11,19:0.619:30:3,6:2,2:7,12:5,6,8,11
chr1	37587294	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,21|9,7;DP=70;ECNT=1;GERMQ=28;MBQ=20,20;MFRL=165,153;MMQ=60,60;MPOS=35;NALOD=1.04;NLOD=5.81;POPAF=1.92;RPA=11,10;RU=A;STR;STRQ=10;TLOD=18.45;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GNL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0025;AF_raw=0.0035;AF_male=0.0026;AF_female=0.0025;AF_afr=0.0075;AF_ami=0;AF_amr=0.0008;AF_asj=0;AF_eas=0.0003;AF_fin=0.0016;AF_nfe=0.0002;AF_oth=0.0025;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs367923987;ExAC_ALL=0.0630;ExAC_AFR=0.0624;ExAC_AMR=0.0389;ExAC_EAS=0.0512;ExAC_FIN=0.0097;ExAC_NFE=0.0606;ExAC_OTH=0.0614;ExAC_SAS=0.1440;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.046:28:6,0:13,0:20,0:18,10,0,0	0/1:24,16:0.436:40:5,6:8,2:13,10:13,11,9,7
chr1	37614229	.	C	CG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,65|15,14;DP=170;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=153,154;MMQ=60,60;MPOS=43;NALOD=1.62;NLOD=12.33;POPAF=6;RPA=3,4;RU=G;STR;STRQ=93;TLOD=29.89;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RSPO1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=RSPO1:NM_001242908:exon5:c.390dupC:p.E131Rfs*14,RSPO1:NM_001242909:exon5:c.309dupC:p.E104Rfs*14,RSPO1:NM_001242910:exon5:c.390dupC:p.E131Rfs*14,RSPO1:NM_001038633:exon6:c.390dupC:p.E131Rfs*14;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs34023049;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:65,0:0.023:65:21,0:14,0:41,0:34,31,0,0	0/1:72,29:0.296:101:24,11:15,4:39,16:38,34,15,14
chr1	37720908	.	T	TC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,28|4,9;DP=74;ECNT=1;GERMQ=46;MBQ=20,20;MFRL=190,210;MMQ=60,60;MPOS=36;NALOD=1.09;NLOD=6.55;POPAF=4.31;RPA=7,8;RU=C;STR;STRQ=93;TLOD=17.4;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EPHA10;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=0.0002;AF_afr=0.0004;AF_ami=0;AF_amr=7.432e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.56e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs898548037;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.041:27:9,0:5,0:22,0:7,20,0,0	0/1:16,13:0.501:29:1,3:7,1:9,8:8,8,4,9
chr1	37761302	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,16|5,3;DP=62;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=186,162;MMQ=60,60;MPOS=6;NALOD=1.3;NLOD=5.4;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=8.3;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=EPHA10;GeneDetail.refGene=NM_173641:c.*64delG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.048:24:6,0:10,0:18,0:17,7,0,0	0/1:23,8:0.273:31:4,1:9,3:15,5:14,9,5,3
chr1	37808257	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,8|5,2;DP=26;ECNT=1;GERMQ=32;MBQ=25,32;MFRL=203,221;MMQ=60,60;MPOS=24;NALOD=1.03;NLOD=2.71;POPAF=6;TLOD=18.25;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=C1orf122;GeneDetail.refGene=NM_198446:c.-148G>A\x3bNM_001142726:c.-428G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.085:12:6,0:3,0:9,0:6,6,0,0	0/1:5,7:0.541:12:3,2:0,2:5,6:3,2,5,2
chr1	38022834	.	CTTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,24|10,21;DP=91;ECNT=1;GERMQ=53;MBQ=20,20;MFRL=173,174;MMQ=60,60;MPOS=37;NALOD=0.635;NLOD=4.06;POPAF=6;RPA=13,10;RU=T;STR;STRQ=93;TLOD=27.44;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=UTP11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs756654898;ExAC_ALL=0.0004;ExAC_AFR=0.0003;ExAC_AMR=0.0011;ExAC_EAS=0;ExAC_FIN=0.0009;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:25,2:0.081:27:6,1:6,0:18,1:7,18,1,1	0/1:9,29:0.739:38:2,7:3,7:6,18:3,6,9,20
chr1	39304565	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,27|10,12;DP=81;ECNT=1;GERMQ=15;MBQ=20,20;MFRL=165,186;MMQ=60,60;MPOS=36;NALOD=0.667;NLOD=5.26;POPAF=1.85;RPA=13,12;RU=T;STR;STRQ=53;TLOD=11.52;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MACF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0019;AF_raw=0.0030;AF_male=0.0024;AF_female=0.0014;AF_afr=0.0006;AF_ami=0;AF_amr=0.0015;AF_asj=0.0003;AF_eas=0.0007;AF_fin=0.0099;AF_nfe=0.0020;AF_oth=0.0015;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.05:28:2,0:10,0:18,0:12,16,0,0	0/1:21,22:0.508:43:5,5:5,6:11,12:10,11,10,12
chr1	39387506	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,52|23,22;DP=167;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,150;MMQ=60,60;MPOS=40;NALOD=1.62;NLOD=11.66;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=39.74;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MACF1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MACF1:NM_012090:exon52:c.8479delA:p.T2829Lfs*29;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs775539898;ExAC_ALL=8.255e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.5e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.024:57:15,0:18,0:39,0:27,30,0,0	0/1:48,45:0.461:93:15,11:8,12:27,23:26,22,23,22
chr1	39388572	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,57|2,3;DP=128;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,189;MMQ=60,60;MPOS=33;NALOD=1.46;NLOD=8.43;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=4.91;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MACF1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MACF1:NM_012090:exon52:c.9545delC:p.T3183Qfs*12;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.033:42:9,0:14,0:28,0:20,22,0,0	0/1:69,5:0.086:74:14,2:20,0:41,3:34,35,2,3
chr1	39465045	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,21|19,15;DP=81;ECNT=1;GERMQ=43;MBQ=20,20;MFRL=157,158;MMQ=60,60;MPOS=39;NALOD=1.3;NLOD=5.64;POPAF=3.43;RPA=9,8;RU=T;STR;STRQ=93;TLOD=34.22;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MACF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0004;AF_female=0.0003;AF_afr=0.0001;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0.0007;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000599042;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000599042;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0031;avsnp150=rs566778389;ExAC_ALL=0.0008;ExAC_AFR=0.0005;ExAC_AMR=0.0003;ExAC_EAS=0.0008;ExAC_FIN=0.0002;ExAC_NFE=0.0012;ExAC_OTH=0.0011;ExAC_SAS=0.0005;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.048:29:10,0:7,0:19,0:16,13,0,0	0/1:17,34:0.668:51:7,8:2,11:9,19:9,8,19,15
chr1	39626999	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=84,95|16,21;DP=225;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,149;MMQ=60,60;MPOS=36;NALOD=1.76;NLOD=16.85;POPAF=2;TLOD=79.38;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HEYL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HEYL:NM_014571:exon5:c.G495A:p.T165T;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0097;AF_raw=0.0097;AF_male=0.0126;AF_female=0.0070;AF_afr=0.0011;AF_ami=0;AF_amr=0.0460;AF_asj=0.0009;AF_eas=0;AF_fin=0.0416;AF_nfe=0.0039;AF_oth=0.0084;AF_sas=0.0023;ALL.sites.2015_08=0.0103834;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.0103834;EUR.sites.2015_08=0.0119;AMR.sites.2015_08=0.0548;EUR.sites.2015_08=0.0119;EAS.sites.2015_08=.;SAS.sites.2015_08=0.001;avsnp150=rs41264503;ExAC_ALL=0.0123;ExAC_AFR=0.0008;ExAC_AMR=0.0707;ExAC_EAS=0.0001;ExAC_FIN=0.0479;ExAC_NFE=0.0045;ExAC_OTH=0.0090;ExAC_SAS=0.0032;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:82,0:0.017:82:29,0:23,0:56,0:38,44,0,0	0/1:97,37:0.282:134:22,11:30,10:55,21:46,51,16,21
chr1	39764672	COSV59593371	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=152,139|15,20;DP=328;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,139;MMQ=48,48;MPOS=42;NALOD=0.42;NLOD=23.61;POPAF=4.13;TLOD=64.51;AA=p.P273%3D;CDS=c.819G>A;CNT=5;GENE=BMP8B;HGVSC=ENST00000372827.7:c.819G>A;HGVSG=1:g.39764672C>T;HGVSP=ENSP00000361915.3:p.Pro273%3D;LEGACY_ID=COSM909346;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=BMP8B;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BMP8B:NM_001720:exon4:c.G819A:p.P273P;cytoBand=1p34.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.797e-05;AF_raw=4.187e-05;AF_male=2.885e-05;AF_female=2.714e-05;AF_afr=2.393e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0010;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs750727741;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=8.666e-05;ExAC_EAS=0.0013;ExAC_FIN=0;ExAC_NFE=4.525e-05;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:146,1:0.022:147:33,1:43,0:88,1:78,68,0,1	0/1:145,34:0.215:179:35,8:37,11:79,21:74,71,15,19
chr1	40280420	.	CTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,20|2,6;DP=51;ECNT=1;GERMQ=47;MBQ=20,20;MFRL=181,192;MMQ=60,60;MPOS=38;NALOD=0.929;NLOD=4.49;POPAF=6;RPA=12,10;RU=T;STR;STRQ=93;TLOD=15.84;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZMPSTE24;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=2.851e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.059:22:5,0:4,0:15,0:8,14,0,0	0/1:12,8:0.467:20:2,2:4,2:7,6:6,6,2,6
chr1	40374622	COSV65531301	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,34|10,5;DP=118;ECNT=1;GERMQ=40;MBQ=20,20;MFRL=185,184;MMQ=60,60;MPOS=49;NALOD=0.655;NLOD=6.89;POPAF=0.996;TLOD=23.36;AA=p.?;CDS=c.103+399T>A;CNT=3;GENE=SMAP2;HGVSC=ENST00000372718.7:c.103+399T>A;HGVSG=1:g.40374622T>A;LEGACY_ID=COSN19692936;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SMAP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.1000;AF_raw=0.1065;AF_male=0.1005;AF_female=0.0995;AF_afr=0.1067;AF_ami=0.1530;AF_amr=0.1245;AF_asj=0.0639;AF_eas=0.1960;AF_fin=0.0733;AF_nfe=0.0888;AF_oth=0.1104;AF_sas=0.1562;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs544699837;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.037:40:13,0:7,0:23,0:21,19,0,0	0/1:34,15:0.343:49:9,4:6,5:20,10:19,15,10,5
chr1	40462397	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,22|9,7;DP=72;ECNT=1;GERMQ=42;MBQ=20,20;MFRL=189,183;MMQ=60,60;MPOS=27;NALOD=0.976;NLOD=5.08;POPAF=3.57;RPA=9,8;RU=T;STR;STRQ=5;TLOD=13.92;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZFP69B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.107e-05;AF_raw=3.5e-05;AF_male=0;AF_female=4.087e-05;AF_afr=2.391e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.119e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766978959;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.053:28:8,0:9,0:17,0:17,11,0,0	0/1:28,16:0.356:44:13,5:4,4:17,9:17,11,9,7
chr1	40629003	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,13|1,3;DP=26;ECNT=1;GERMQ=37;MBQ=20,26;MFRL=152,179;MMQ=60,60;MPOS=34;NALOD=1;NLOD=2.71;POPAF=6;TLOD=9.93;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RIMS3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.091:14:6,0:3,0:9,0:5,9,0,0	0/1:8,4:0.444:12:1,2:3,1:4,3:4,4,1,3
chr1	40641716	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,34|2,2;DP=93;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,145;MMQ=60,60;MPOS=45;NALOD=1.35;NLOD=6.32;POPAF=6;TLOD=5.59;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RIMS3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RIMS3:NM_014747:exon3:c.G210A:p.P70P;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.977e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=2.378e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs202021668;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.043:27:11,0:10,0:21,0:21,6,0,0	0/1:60,4:0.083:64:15,2:17,0:32,2:32,28,2,2
chr1	40820094	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,17|3,4;DP=45;ECNT=1;GERMQ=67;MBQ=35,20;MFRL=194,142;MMQ=60,60;MPOS=34;NALOD=1.28;NLOD=5.42;POPAF=6;TLOD=14.02;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KCNQ4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.05:22:6,0:12,0:18,0:13,9,0,0	0/1:15,7:0.278:22:7,4:4,0:12,4:7,8,3,4
chr1	41017257	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,53|14,15;DP=148;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,137;MMQ=60,60;MPOS=49;NALOD=1.57;NLOD=10.83;POPAF=4.13;TLOD=62.88;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLFNL1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLFNL1:NM_001377532:exon3:c.G1078A:p.A360T,SLFNL1:NM_144990:exon4:c.G1078A:p.A360T,SLFNL1:NM_001168247:exon5:c.G1078A:p.A360T,SLFNL1:NM_001300859:exon5:c.G901A:p.A301T;cytoBand=1p34.2;SIFT_score=0.021;SIFT_converted_rankscore=0.491;SIFT_pred=D;SIFT4G_score=0.019;SIFT4G_converted_rankscore=0.592;SIFT4G_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.565;Polyphen2_HVAR_rankscore=0.661;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=0.942;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.39;MutationAssessor_rankscore=0.689;MutationAssessor_pred=M;FATHMM_score=1.67;FATHMM_converted_rankscore=0.273;FATHMM_pred=T;PROVEAN_score=-2.02;PROVEAN_converted_rankscore=0.468;PROVEAN_pred=N;VEST4_score=0.261;VEST4_rankscore=0.329;MetaSVM_score=-1.053;MetaSVM_rankscore=0.135;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_rankscore=0.420;MetaLR_pred=T;MetaRNN_score=0.028;MetaRNN_rankscore=0.009;MetaRNN_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.309;M-CAP_pred=T;REVEL_score=0.137;REVEL_rankscore=0.374;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.334;MVP_rankscore=0.331;MPC_score=0.062;MPC_rankscore=0.069;PrimateAI_score=0.441;PrimateAI_rankscore=0.308;PrimateAI_pred=T;DEOGEN2_score=0.013;DEOGEN2_rankscore=0.113;DEOGEN2_pred=T;BayesDel_addAF_score=-0.276;BayesDel_addAF_rankscore=0.111;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.246;BayesDel_noAF_rankscore=0.502;BayesDel_noAF_pred=T;ClinPred_score=0.079;ClinPred_rankscore=0.098;ClinPred_pred=T;LIST-S2_score=0.683;LIST-S2_rankscore=0.298;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.146;CADD_raw_rankscore=0.553;CADD_phred=23.7;DANN_score=0.999;DANN_rankscore=0.993;fathmm-MKL_coding_score=0.733;fathmm-MKL_coding_rankscore=0.359;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.193;fathmm-XF_coding_rankscore=0.320;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.440;Eigen-raw_coding_rankscore=0.636;Eigen-PC-raw_coding=0.480;Eigen-PC-raw_coding_rankscore=0.666;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.660;integrated_fitCons_rankscore=0.498;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.57;GERP++_RS=5.57;GERP++_RS_rankscore=0.840;phyloP100way_vertebrate=2.601;phyloP100way_vertebrate_rankscore=0.459;phyloP30way_mammalian=0.129;phyloP30way_mammalian_rankscore=0.186;phastCons100way_vertebrate=0.981;phastCons100way_vertebrate_rankscore=0.354;phastCons30way_mammalian=0.715;phastCons30way_mammalian_rankscore=0.313;SiPhy_29way_logOdds=15.047;SiPhy_29way_logOdds_rankscore=0.715;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.677e-05;AF_raw=7.672e-05;AF_male=8.642e-05;AF_female=6.77e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0.0004;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=0.0014;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs187351729;ExAC_ALL=0.0002;ExAC_AFR=0.0005;ExAC_AMR=0.0030;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=5.351e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.026:56:17,0:18,0:36,0:31,25,0,0	0/1:58,29:0.32:87:15,7:16,8:33,15:30,28,14,15
chr1	41020393	COSV57235771	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=60,52|21,19;DP=154;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,156;MMQ=60,60;MPOS=18;NALOD=1.45;NLOD=8.08;POPAF=6;TLOD=86.39;AA=p.R90W,p.R90W,p.R90W,p.R90W,p.R90W;CDS=c.268C>T,c.268C>T,c.268C>T,c.268C>T,c.268C>T;CNT=2,2,2,2,2;GENE=SLFNL1_ENST00000439569,SLFNL1,SLFNL1_ENST00000372611,SLFNL1_ENST00000372613,SLFNL1_ENST00000302946;HGVSC=ENST00000439569.2:c.268C>T,ENST00000359345.5:c.268C>T,ENST00000372611.5:c.268C>T,ENST00000372613.6:c.268C>T,ENST00000302946.12:c.268C>T;HGVSG=1:g.41020393G>A,1:g.41020393G>A,1:g.41020393G>A,1:g.41020393G>A,1:g.41020393G>A;HGVSP=ENSP00000398938.2:p.Arg90Trp,ENSP00000352299.1:p.Arg90Trp,ENSP00000361694.1:p.Arg90Trp,ENSP00000361696.2:p.Arg90Trp,ENSP00000304401.8:p.Arg90Trp;LEGACY_ID=COSM6784075,COSM6784075,COSM6784075,COSM6784075,COSM6784075;STRAND=-,-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLFNL1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLFNL1:NM_001377532:exon1:c.C268T:p.R90W,SLFNL1:NM_144990:exon2:c.C268T:p.R90W,SLFNL1:NM_001168247:exon3:c.C268T:p.R90W,SLFNL1:NM_001300859:exon3:c.C268T:p.R90W;cytoBand=1p34.2;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.003;SIFT4G_converted_rankscore=0.765;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.94;Polyphen2_HVAR_rankscore=0.738;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.432;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.085;MutationAssessor_rankscore=0.577;MutationAssessor_pred=M;FATHMM_score=0.13;FATHMM_converted_rankscore=0.610;FATHMM_pred=T;PROVEAN_score=-2.8;PROVEAN_converted_rankscore=0.651;PROVEAN_pred=D;VEST4_score=0.502;VEST4_rankscore=0.534;MetaSVM_score=-0.739;MetaSVM_rankscore=0.585;MetaSVM_pred=T;MetaLR_score=0.301;MetaLR_rankscore=0.672;MetaLR_pred=T;MetaRNN_score=0.462;MetaRNN_rankscore=0.593;MetaRNN_pred=T;M-CAP_score=0.086;M-CAP_rankscore=0.746;M-CAP_pred=D;REVEL_score=0.294;REVEL_rankscore=0.618;MutPred_score=0.733;MutPred_rankscore=0.866;MVP_score=0.447;MVP_rankscore=0.444;MPC_score=0.336;MPC_rankscore=0.356;PrimateAI_score=0.418;PrimateAI_rankscore=0.275;PrimateAI_pred=T;DEOGEN2_score=0.057;DEOGEN2_rankscore=0.304;DEOGEN2_pred=T;BayesDel_addAF_score=-0.105;BayesDel_addAF_rankscore=0.355;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.259;BayesDel_noAF_rankscore=0.490;BayesDel_noAF_pred=T;ClinPred_score=0.747;ClinPred_rankscore=0.431;ClinPred_pred=D;LIST-S2_score=0.780;LIST-S2_rankscore=0.421;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.804;CADD_raw_rankscore=0.478;CADD_phred=23.0;DANN_score=0.999;DANN_rankscore=0.960;fathmm-MKL_coding_score=0.290;fathmm-MKL_coding_rankscore=0.237;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.097;fathmm-XF_coding_rankscore=0.197;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.039;Eigen-raw_coding_rankscore=0.436;Eigen-PC-raw_coding=-0.106;Eigen-PC-raw_coding_rankscore=0.352;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.518;integrated_fitCons_score=0.660;integrated_fitCons_rankscore=0.498;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.8;GERP++_RS=3.87;GERP++_RS_rankscore=0.438;phyloP100way_vertebrate=0.294;phyloP100way_vertebrate_rankscore=0.188;phyloP30way_mammalian=0.226;phyloP30way_mammalian_rankscore=0.251;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.198;phastCons30way_mammalian_rankscore=0.221;SiPhy_29way_logOdds=8.977;SiPhy_29way_logOdds_rankscore=0.351;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs772320727;ExAC_ALL=2.494e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.034e-05;ExAC_OTH=0;ExAC_SAS=6.063e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.035:39:12,0:14,0:27,0:23,16,0,0	0/1:73,40:0.359:113:18,13:20,9:40,22:37,36,21,19
chr1	41151724	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,16|5,5;DP=45;ECNT=1;GERMQ=38;MBQ=20,20;MFRL=155,175;MMQ=60,60;MPOS=34;NALOD=0.824;NLOD=3.26;POPAF=6;RPA=8,7;RU=A;STR;STRQ=5;TLOD=10.09;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SCMH1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.99e-06;AF_raw=6.978e-06;AF_male=1.443e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.55e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs765697244;ExAC_ALL=5.034e-05;ExAC_AFR=0;ExAC_AMR=8.682e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=6.068e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.075:20:8,0:3,0:11,0:9,11,0,0	0/1:9,10:0.499:19:2,3:2,3:6,6:4,5,5,5
chr1	41582851	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=112,108|5,5;DP=242;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,156;MMQ=60,60;MPOS=34;NALOD=1.73;NLOD=15.34;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=5.95;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HIVEP3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=HIVEP3:NM_001127714:exon3:c.1946delG:p.G649Vfs*50,HIVEP3:NM_024503:exon4:c.1946delG:p.G649Vfs*50;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:83,0:0.018:83:21,0:24,0:51,0:42,41,0,0	0/1:137,10:0.065:147:40,5:34,0:75,5:70,67,5,5
chr1	41583137	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,35|18,16;DP=146;ECNT=1;GERMQ=81;MBQ=20,20;MFRL=158,156;MMQ=60,60;MPOS=34;NALOD=0.484;NLOD=6.71;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=34.5;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HIVEP3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=HIVEP3:NM_001127714:exon3:c.1660delC:p.H554Tfs*20,HIVEP3:NM_024503:exon4:c.1660delC:p.H554Tfs*20;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,2:0.058:41:11,0:11,1:30,1:24,15,1,1	0/1:48,32:0.372:80:19,7:8,7:33,19:28,20,17,15
chr1	42311028	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,19|24,18;DP=86;ECNT=1;GERMQ=44;MBQ=20,20;MFRL=189,148;MMQ=60,60;MPOS=42;NALOD=0.193;NLOD=4.48;POPAF=2.3;RPA=11,10;RU=A;STR;STRQ=93;TLOD=33.75;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FOXJ3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0006;AF_raw=0.0009;AF_male=0.0006;AF_female=0.0006;AF_afr=0.0003;AF_ami=0;AF_amr=0.0009;AF_asj=0;AF_eas=0.0007;AF_fin=0.0009;AF_nfe=0.0006;AF_oth=0.0026;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs751818618;ExAC_ALL=0.0475;ExAC_AFR=0.0448;ExAC_AMR=0.0394;ExAC_EAS=0.0394;ExAC_FIN=0.0185;ExAC_NFE=0.0539;ExAC_OTH=0.0394;ExAC_SAS=0.0459;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,2:0.077:31:5,0:11,1:21,1:15,14,1,1	0/1:11,40:0.764:51:3,9:3,14:7,23:6,5,23,17
chr1	42682543	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,28|4,3;DP=59;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=178,86;MMQ=60,60;MPOS=15;NALOD=1.18;NLOD=4.21;POPAF=6;TLOD=13.85;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=YBX1;GeneDetail.refGene=NM_004559:c.-23C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766974037;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.063:22:7,0:7,0:14,0:10,12,0,0	0/1:30,7:0.24:37:10,2:8,3:18,5:14,16,4,3
chr1	42746753	.	C	CG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=60,55|16,13;DP=153;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,147;MMQ=60,60;MPOS=26;NALOD=0.886;NLOD=9.12;POPAF=6;RPA=7,8;RU=G;STR;STRQ=93;TLOD=23.62;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=P3H1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=P3H1:NM_022356:exon15:c.2154dupC:p.E719Rfs*11;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.398e-05;AF_raw=1.396e-05;AF_male=1.442e-05;AF_female=1.356e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.1e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs752671524;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:55,2:0.046:57:15,0:15,1:37,1:30,25,1,1	0/1:60,27:0.324:87:17,9:14,7:34,16:30,30,15,12
chr1	42929670	COSV65286639	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=68,63|18,16;DP=168;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,156;MMQ=60,60;MPOS=35;NALOD=1.59;NLOD=11.43;POPAF=6;TLOD=69.4;AA=p.R264C;CDS=c.790C>T;CNT=2;GENE=SLC2A1;HGVSC=ENST00000426263.8:c.790C>T;HGVSG=1:g.42929670G>A;HGVSP=ENSP00000416293.2:p.Arg264Cys;LEGACY_ID=COSM2170160;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLC2A1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLC2A1:NM_006516:exon6:c.C790T:p.R264C;cytoBand=1p34.2;SIFT_score=0.139;SIFT_converted_rankscore=0.258;SIFT_pred=T;SIFT4G_score=0.14;SIFT4G_converted_rankscore=0.336;SIFT4G_pred=T;Polyphen2_HDIV_score=0.628;Polyphen2_HDIV_rankscore=0.401;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.117;Polyphen2_HVAR_rankscore=0.320;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.895;MutationAssessor_rankscore=0.504;MutationAssessor_pred=L;FATHMM_score=-1.7;FATHMM_converted_rankscore=0.831;FATHMM_pred=D;PROVEAN_score=-6.15;PROVEAN_converted_rankscore=0.902;PROVEAN_pred=D;VEST4_score=0.903;VEST4_rankscore=0.904;MetaSVM_score=0.064;MetaSVM_rankscore=0.835;MetaSVM_pred=D;MetaLR_score=0.515;MetaLR_rankscore=0.818;MetaLR_pred=D;MetaRNN_score=0.869;MetaRNN_rankscore=0.862;MetaRNN_pred=D;M-CAP_score=0.190;M-CAP_rankscore=0.861;M-CAP_pred=D;REVEL_score=0.752;REVEL_rankscore=0.916;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.907;MVP_rankscore=0.906;MPC_score=2.310;MPC_rankscore=0.966;PrimateAI_score=0.680;PrimateAI_rankscore=0.642;PrimateAI_pred=T;DEOGEN2_score=0.911;DEOGEN2_rankscore=0.983;DEOGEN2_pred=D;BayesDel_addAF_score=0.227;BayesDel_addAF_rankscore=0.764;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.314;BayesDel_noAF_rankscore=0.888;BayesDel_noAF_pred=D;ClinPred_score=0.518;ClinPred_rankscore=0.333;ClinPred_pred=D;LIST-S2_score=0.978;LIST-S2_rankscore=0.923;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.330;CADD_raw_rankscore=0.598;CADD_phred=24.2;DANN_score=0.999;DANN_rankscore=0.994;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.735;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.955;fathmm-XF_coding_rankscore=0.972;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.451;Eigen-raw_coding_rankscore=0.642;Eigen-PC-raw_coding=0.511;Eigen-PC-raw_coding_rankscore=0.688;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.14;GERP++_RS=5.14;GERP++_RS_rankscore=0.700;phyloP100way_vertebrate=8.011;phyloP100way_vertebrate_rankscore=0.882;phyloP30way_mammalian=1.101;phyloP30way_mammalian_rankscore=0.549;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.987;phastCons30way_mammalian_rankscore=0.506;SiPhy_29way_logOdds=16.110;SiPhy_29way_logOdds_rankscore=0.811;Interpro_domain=Major_facilitator_superfamily_domain|Major_facilitator_superfamily_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.094e-05;AF_raw=2.092e-05;AF_male=1.44e-05;AF_female=2.708e-05;AF_afr=2.378e-05;AF_ami=0;AF_amr=7.323e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766376173;ExAC_ALL=4.126e-05;ExAC_AFR=0;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:61,0:0.025:61:16,0:22,0:38,0:33,28,0,0	0/1:70,34:0.328:104:18,10:18,8:38,18:35,35,18,16
chr1	43364489	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,47|2,2;DP=100;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,176;MMQ=60,60;MPOS=26;NALOD=1.4;NLOD=6.92;POPAF=6;TLOD=5.55;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ELOVL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.039:35:7,0:14,0:23,0:17,18,0,0	0/1:56,4:0.081:60:21,2:12,0:33,2:27,29,2,2
chr1	43365664	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,25|2,2;DP=51;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=157,169;MMQ=60,60;MPOS=67;NALOD=1.18;NLOD=4.21;POPAF=6;TLOD=6.74;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ELOVL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.063:22:5,0:8,0:14,0:9,13,0,0	0/1:23,4:0.186:27:7,1:5,1:12,2:11,12,2,2
chr1	43440470	.	TC	AA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=74,65|1,1;DP=141;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=152,146;MMQ=60,60;MPOS=14;NALOD=1.53;NLOD=9.93;POPAF=6;TLOD=5.67;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SZT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=SZT2:NM_015284:exon51:c.7057_7058delinsAA:p.S2353K,SZT2:NM_001365999:exon52:c.7228_7229delinsAA:p.S2410K;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:57,0:0.029:57:12,0:17,0:33,0:0|1:43440470_TC_AA:43440470:30,27,0,0	0|1:82,2:0.042:84:20,0:22,1:45,1:0|1:43440470_TC_AA:43440470:44,38,1,1
chr1	43442318	COSV100987615	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=56,57|13,12;DP=143;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,136;MMQ=60,60;MPOS=30;NALOD=1.48;NLOD=8.72;POPAF=6;TLOD=48.66;AA=p.R2585*,p.R2642*;CDS=c.7753C>T,c.7924C>T;CNT=1,1;GENE=SZT2,SZT2_ENST00000634258;HGVSC=ENST00000562955.2:c.7753C>T,ENST00000634258.2:c.7924C>T;HGVSG=1:g.43442318C>T,1:g.43442318C>T;HGVSP=ENSP00000457168.1:p.Arg2585Ter,ENSP00000489255.1:p.Arg2642Ter;LEGACY_ID=COSM8295151,COSM8295151;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SZT2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SZT2:NM_015284:exon56:c.C7753T:p.R2585X,SZT2:NM_001365999:exon57:c.C7924T:p.R2642X;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.033;LRT_converted_rankscore=0.249;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.248;VEST4_rankscore=0.280;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.625;BayesDel_addAF_rankscore=0.994;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.66;BayesDel_noAF_rankscore=0.994;BayesDel_noAF_pred=D;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3bRecessive\x3b;Aloft_Confidence=.\x3bHigh\x3b;CADD_raw=7.144;CADD_raw_rankscore=0.973;CADD_phred=37;DANN_score=0.993;DANN_rankscore=0.583;fathmm-MKL_coding_score=0.314;fathmm-MKL_coding_rankscore=0.243;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.084;fathmm-XF_coding_rankscore=0.170;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.055;Eigen-raw_coding_rankscore=0.394;Eigen-PC-raw_coding=-0.344;Eigen-PC-raw_coding_rankscore=0.267;GenoCanyon_score=0.094;GenoCanyon_rankscore=0.162;integrated_fitCons_score=0.701;integrated_fitCons_rankscore=0.578;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.15;GERP++_RS=0.734;GERP++_RS_rankscore=0.174;phyloP100way_vertebrate=0.023;phyloP100way_vertebrate_rankscore=0.134;phyloP30way_mammalian=-0.344;phyloP30way_mammalian_rankscore=0.069;phastCons100way_vertebrate=0.068;phastCons100way_vertebrate_rankscore=0.220;phastCons30way_mammalian=0.784;phastCons30way_mammalian_rankscore=0.330;SiPhy_29way_logOdds=13.059;SiPhy_29way_logOdds_rankscore=0.584;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,0:0.032:43:12,0:14,0:29,0:20,23,0,0	0/1:70,25:0.237:95:21,5:19,8:44,13:36,34,13,12
chr1	43443176	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,30|12,10;DP=100;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=183,136;MMQ=60,60;MPOS=22;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=50.24;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SZT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,0:0.03:43:14,0:15,0:31,0:26,17,0,0	0/1:28,22:0.437:50:10,7:7,6:17,13:15,13,12,10
chr1	43446948	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,23|2,2;DP=60;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=183,141;MMQ=60,60;MPOS=40;NALOD=1.15;NLOD=3.91;POPAF=6;TLOD=6.02;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SZT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.067:19:3,0:10,0:13,0:13,6,0,0	0/1:34,4:0.135:38:11,1:6,1:18,2:17,17,2,2
chr1	43592644	.	GAC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,10|3,4;DP=34;ECNT=1;GERMQ=4;MBQ=20,20;MFRL=180,174;MMQ=60,60;MPOS=51;NALOD=1.05;NLOD=2.69;POPAF=3.05;RPA=7,6;RU=AC;STR;STRQ=4;TLOD=13.62;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PTPRF;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.008e-06;AF_raw=0.0001;AF_male=0;AF_female=1.359e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.553e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs796991610;ExAC_ALL=0.0852;ExAC_AFR=0.0484;ExAC_AMR=0.0869;ExAC_EAS=0.1104;ExAC_FIN=0.0737;ExAC_NFE=0.0875;ExAC_OTH=0.0927;ExAC_SAS=0.0958;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.084:16:5,0:2,0:9,0:7,9,0,0	0/1:1,7:0.729:8:0,1:1,2:1,4:0,1,3,4
chr1	43597985	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=57,58|22,25;DP=172;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=159,132;MMQ=60,60;MPOS=39;NALOD=1.58;NLOD=11.14;POPAF=6;TLOD=98.39;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PTPRF;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PTPRF:NM_002840:exon12:c.T2051C:p.V684A,PTPRF:NM_130440:exon12:c.T2051C:p.V684A;cytoBand=1p34.2;SIFT_score=0.03;SIFT_converted_rankscore=0.454;SIFT_pred=D;SIFT4G_score=0.015;SIFT4G_converted_rankscore=0.616;SIFT4G_pred=D;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.130;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.02;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.655;MutationAssessor_rankscore=0.942;MutationAssessor_pred=H;FATHMM_score=-0.8;FATHMM_converted_rankscore=0.738;FATHMM_pred=T;PROVEAN_score=-1.92;PROVEAN_converted_rankscore=0.447;PROVEAN_pred=N;VEST4_score=0.852;VEST4_rankscore=0.881;MetaSVM_score=0.217;MetaSVM_rankscore=0.862;MetaSVM_pred=D;MetaLR_score=0.557;MetaLR_rankscore=0.838;MetaLR_pred=D;MetaRNN_score=0.915;MetaRNN_rankscore=0.909;MetaRNN_pred=D;M-CAP_score=0.208;M-CAP_rankscore=0.871;M-CAP_pred=D;REVEL_score=0.631;REVEL_rankscore=0.860;MutPred_score=0.804;MutPred_rankscore=0.922;MVP_score=0.911;MVP_rankscore=0.910;MPC_score=0.368;MPC_rankscore=0.383;PrimateAI_score=0.728;PrimateAI_rankscore=0.712;PrimateAI_pred=T;DEOGEN2_score=0.233;DEOGEN2_rankscore=0.599;DEOGEN2_pred=T;BayesDel_addAF_score=0.217;BayesDel_addAF_rankscore=0.755;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.074;BayesDel_noAF_rankscore=0.752;BayesDel_noAF_pred=D;ClinPred_score=0.842;ClinPred_rankscore=0.495;ClinPred_pred=D;LIST-S2_score=0.786;LIST-S2_rankscore=0.424;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=2.799;CADD_raw_rankscore=0.477;CADD_phred=23.0;DANN_score=0.991;DANN_rankscore=0.534;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.731;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.782;fathmm-XF_coding_rankscore=0.714;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.176;Eigen-raw_coding_rankscore=0.501;Eigen-PC-raw_coding=0.161;Eigen-PC-raw_coding_rankscore=0.477;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.36;GERP++_RS=3.36;GERP++_RS_rankscore=0.376;phyloP100way_vertebrate=5.902;phyloP100way_vertebrate_rankscore=0.696;phyloP30way_mammalian=1.123;phyloP30way_mammalian_rankscore=0.569;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=12.069;SiPhy_29way_logOdds_rankscore=0.529;Interpro_domain=Fibronectin_type_III|Fibronectin_type_III|Fibronectin_type_III|Fibronectin_type_III\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.026:57:18,0:16,0:37,0:28,29,0,0	0/1:58,47:0.441:105:15,13:14,9:32,25:29,29,22,25
chr1	43691516	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,68|15,17;DP=170;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,146;MMQ=60,60;MPOS=34;NALOD=1.58;NLOD=11.14;POPAF=6;TLOD=65.37;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=KDM4A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KDM4A:NM_014663:exon15:c.G2263A:p.A755T;cytoBand=1p34.2;SIFT_score=0.436;SIFT_converted_rankscore=0.094;SIFT_pred=T;SIFT4G_score=0.487;SIFT4G_converted_rankscore=0.117;SIFT4G_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.099;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.005;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.006;LRT_converted_rankscore=0.324;LRT_pred=N;MutationTaster_score=0.562;MutationTaster_converted_rankscore=0.322;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_rankscore=0.310;MutationAssessor_pred=L;FATHMM_score=2.4;FATHMM_converted_rankscore=0.156;FATHMM_pred=T;PROVEAN_score=-0.16;PROVEAN_converted_rankscore=0.095;PROVEAN_pred=N;VEST4_score=0.101;VEST4_rankscore=0.084;MetaSVM_score=-1.034;MetaSVM_rankscore=0.192;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.091;MetaLR_pred=T;MetaRNN_score=0.058;MetaRNN_rankscore=0.068;MetaRNN_pred=T;M-CAP_score=0.002;M-CAP_rankscore=0.044;M-CAP_pred=T;REVEL_score=0.022;REVEL_rankscore=0.045;MutPred_score=0.31;MutPred_rankscore=0.283;MVP_score=0.134;MVP_rankscore=0.129;MPC_score=0.573;MPC_rankscore=0.534;PrimateAI_score=0.366;PrimateAI_rankscore=0.202;PrimateAI_pred=T;DEOGEN2_score=0.009;DEOGEN2_rankscore=0.084;DEOGEN2_pred=T;BayesDel_addAF_score=-0.437;BayesDel_addAF_rankscore=0.013;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.685;BayesDel_noAF_rankscore=0.067;BayesDel_noAF_pred=T;ClinPred_score=0.130;ClinPred_rankscore=0.154;ClinPred_pred=T;LIST-S2_score=0.648;LIST-S2_rankscore=0.259;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.933;CADD_raw_rankscore=0.293;CADD_phred=18.74;DANN_score=0.970;DANN_rankscore=0.321;fathmm-MKL_coding_score=0.950;fathmm-MKL_coding_rankscore=0.631;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.258;fathmm-XF_coding_rankscore=0.377;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.381;Eigen-raw_coding_rankscore=0.261;Eigen-PC-raw_coding=-0.157;Eigen-PC-raw_coding_rankscore=0.331;GenoCanyon_score=0.989;GenoCanyon_rankscore=0.317;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.68;GERP++_RS=3.81;GERP++_RS_rankscore=0.430;phyloP100way_vertebrate=4.180;phyloP100way_vertebrate_rankscore=0.581;phyloP30way_mammalian=-0.129;phyloP30way_mammalian_rankscore=0.116;phastCons100way_vertebrate=0.947;phastCons100way_vertebrate_rankscore=0.329;phastCons30way_mammalian=0.985;phastCons30way_mammalian_rankscore=0.496;SiPhy_29way_logOdds=12.271;SiPhy_29way_logOdds_rankscore=0.540;Interpro_domain=Zinc_finger,_PHD-type;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs765116932;ExAC_ALL=8.236e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.056e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.026:62:14,0:23,0:37,0:33,29,0,0	0/1:75,32:0.295:107:20,8:19,9:42,17:36,39,15,17
chr1	43920544	COSV105018503	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,43|5,5;DP=87;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=152,191;MMQ=60,60;MPOS=46;NALOD=1.4;NLOD=7.18;POPAF=6;TLOD=16.69;AA=p.G265%3D,p.G310%3D,p.G279%3D,p.G349%3D,p.?,p.?,p.G295%3D,p.?,p.?,p.?,p.G295%3D,p.?,p.?,p.G264%3D,p.G295%3D,p.?,p.?,p.G295%3D,p.G349%3D,p.?,p.G295%3D,p.?,p.?,p.?,p.?,p.G364%3D,p.G326%3D,p.G310%3D,p.G333%3D,p.G295%3D,p.?,p.G279%3D;CDS=c.795C>T,c.930C>T,c.837C>T,c.1047C>T,c.*23-9588C>T,c.255-9588C>T,c.885C>T,c.398-9588C>T,c.907-9588C>T,c.443-9588C>T,c.885C>T,c.*23-9588C>T,c.*23-9588C>T,c.792C>T,c.885C>T,c.255-9588C>T,c.555-9588C>T,c.885C>T,c.1047C>T,c.745-9588C>T,c.885C>T,c.697-9588C>T,c.443-9588C>T,c.350-9588C>T,c.510-9588C>T,c.1092C>T,c.978C>T,c.930C>T,c.999C>T,c.885C>T,c.604-9588C>T,c.837C>T;CNT=1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1;GENE=ST3GAL3_ENST00000372369,ST3GAL3_ENST00000642331,ST3GAL3_ENST00000646686,ST3GAL3_ENST00000351035,ST3GAL3_ENST00000372365,ST3GAL3_ENST00000330208,ST3GAL3_ENST00000647148,ST3GAL3_ENST00000372362,ST3GAL3_ENST00000647237,ST3GAL3_ENST00000545417,ST3GAL3_ENST00000645034,ST3GAL3_ENST00000372366,ST3GAL3_ENST00000335430,ST3GAL3_ENST00000372374,ST3GAL3_ENST00000643252,ST3GAL3_ENST00000531816,ST3GAL3_ENST00000372367,ST3GAL3_ENST00000646971,ST3GAL3_ENST00000372368,ST3GAL3_ENST00000353126,ST3GAL3_ENST00000347631,ST3GAL3_ENST00000642934,ST3GAL3_ENST00000361812,ST3GAL3_ENST00000531451,ST3GAL3_ENST00000528371,ST3GAL3,ST3GAL3_ENST00000361746,ST3GAL3_ENST00000361392,ST3GAL3_ENST00000372372,ST3GAL3_ENST00000644195,ST3GAL3_ENST00000531993,ST3GAL3_ENST00000361400;HGVSC=ENST00000372369.5:c.795C>T,ENST00000642331.1:c.930C>T,ENST00000646686.1:c.837C>T,ENST00000351035.8:c.1047C>T,ENST00000372365.5:c.*23-9588C>T,ENST00000330208.6:c.255-9588C>T,ENST00000647148.1:c.885C>T,ENST00000372362.6:c.398-9588C>T,ENST00000647237.1:c.907-9588C>T,ENST00000545417.5:c.443-9588C>T,ENST00000645034.1:c.885C>T,ENST00000372366.6:c.*23-9588C>T,ENST00000335430.10:c.*23-9588C>T,ENST00000372374.7:c.792C>T,ENST00000643252.1:c.885C>T,ENST00000531816.1:c.255-9588C>T,ENST00000372367.5:c.555-9588C>T,ENST00000646971.1:c.885C>T,ENST00000372368.7:c.1047C>T,ENST00000353126.8:c.745-9588C>T,ENST00000347631.7:c.885C>T,ENST00000642934.1:c.697-9588C>T,ENST00000361812.9:c.443-9588C>T,ENST00000531451.5:c.350-9588C>T,ENST00000528371.5:c.510-9588C>T,ENST00000262915.8:c.1092C>T,ENST00000361746.9:c.978C>T,ENST00000361392.9:c.930C>T,ENST00000372372.7:c.999C>T,ENST00000644195.1:c.885C>T,ENST00000531993.6:c.604-9588C>T,ENST00000361400.9:c.837C>T;HGVSG=1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T,1:g.43920544C>T;HGVSP=ENSP00000361444.1:p.Gly265%3D,ENSP00000493823.1:p.Gly310%3D,ENSP00000495683.1:p.Gly279%3D,ENSP00000316999.6:p.Gly349%3D,ENSP00000495939.1:p.Gly295%3D,ENSP00000496350.1:p.Gly295%3D,ENSP00000361449.2:p.Gly264%3D,ENSP00000495333.1:p.Gly295%3D,ENSP00000495887.1:p.Gly295%3D,ENSP00000361443.3:p.Gly349%3D,ENSP00000317192.5:p.Gly295%3D,ENSP00000262915.3:p.Gly364%3D,ENSP00000354657.5:p.Gly326%3D,ENSP00000355341.5:p.Gly310%3D,ENSP00000361447.2:p.Gly333%3D,ENSP00000494201.1:p.Gly295%3D,ENSP00000354748.4:p.Gly279%3D;LEGACY_ID=COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270,COSM9769270;STRAND=+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ST3GAL3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ST3GAL3:NM_001270460:exon9:c.C792T:p.G264G,ST3GAL3:NM_174969:exon9:c.C837T:p.G279G,ST3GAL3:NM_001270459:exon10:c.C795T:p.G265G,ST3GAL3:NM_001350619:exon10:c.C930T:p.G310G,ST3GAL3:NM_001350620:exon10:c.C885T:p.G295G,ST3GAL3:NM_006279:exon10:c.C885T:p.G295G,ST3GAL3:NM_174964:exon10:c.C930T:p.G310G,ST3GAL3:NM_174971:exon10:c.C999T:p.G333G,ST3GAL3:NM_001350621:exon11:c.C606T:p.G202G,ST3GAL3:NM_174963:exon11:c.C1092T:p.G364G,ST3GAL3:NM_174968:exon11:c.C1047T:p.G349G;cytoBand=1p34.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.039:38:6,0:14,0:24,0:17,21,0,0	0/1:38,10:0.207:48:8,3:9,2:22,5:16,22,5,5
chr1	44172623	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,46|2,2;DP=99;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,109;MMQ=60,60;MPOS=31;NALOD=1.39;NLOD=6.92;POPAF=6;TLOD=5.57;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=KLF18\x3bDMAP1;GeneDetail.refGene=dist\x3d30992\x3bdist\x3d40848;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1019585061;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.039:36:8,0:12,0:23,0:18,18,0,0	0/1:53,4:0.085:57:11,2:18,0:31,2:25,28,2,2
chr1	44284911	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,43|19,19;DP=123;ECNT=1;GERMQ=65;MBQ=20,20;MFRL=168,166;MMQ=60,60;MPOS=41;NALOD=0.637;NLOD=6.35;POPAF=6;RPA=8,7;RU=A;STR;STRQ=93;TLOD=32.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ERI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=6.991e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746626032;ExAC_ALL=0.0003;ExAC_AFR=0.0004;ExAC_AMR=9.017e-05;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,2:0.061:44:10,0:10,1:28,1:19,23,1,1	0/1:36,36:0.486:72:6,7:10,11:20,19:16,20,18,18
chr1	44724763	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,43|20,20;DP=130;ECNT=1;GERMQ=90;MBQ=20,20;MFRL=170,167;MMQ=60,60;MPOS=35;NALOD=1.5;NLOD=9.03;POPAF=6;TLOD=91.15;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARMH1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ARMH1:NM_001145636:exon10:c.G1052A:p.C351Y;cytoBand=1p34.1;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;SIFT4G_score=1.0;SIFT4G_converted_rankscore=0.012;SIFT4G_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.014;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.197;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.85;FATHMM_converted_rankscore=0.471;FATHMM_pred=T;PROVEAN_score=3.35;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST4_score=0.16;VEST4_rankscore=0.167;MetaSVM_score=-1.017;MetaSVM_rankscore=0.248;MetaSVM_pred=T;MetaLR_score=0.021;MetaLR_rankscore=0.088;MetaLR_pred=T;MetaRNN_score=0.017;MetaRNN_rankscore=0.004;MetaRNN_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.340;M-CAP_pred=T;REVEL_score=0.071;REVEL_rankscore=0.211;MutPred_score=0.471;MutPred_rankscore=0.545;MVP_score=0.040;MVP_rankscore=0.022;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.004;DEOGEN2_rankscore=0.036;DEOGEN2_pred=T;BayesDel_addAF_score=-0.306;BayesDel_addAF_rankscore=0.081;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.677;BayesDel_noAF_rankscore=0.071;BayesDel_noAF_pred=T;ClinPred_score=0.053;ClinPred_rankscore=0.060;ClinPred_pred=T;LIST-S2_score=0.401;LIST-S2_rankscore=0.102;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=-0.327;CADD_raw_rankscore=0.022;CADD_phred=0.274;DANN_score=0.917;DANN_rankscore=0.210;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_rankscore=0.069;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.030;fathmm-XF_coding_rankscore=0.029;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.884;Eigen-raw_coding_rankscore=0.004;Eigen-PC-raw_coding=-1.788;Eigen-PC-raw_coding_rankscore=0.008;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.653;integrated_fitCons_rankscore=0.485;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.46;GERP++_RS=-7.11;GERP++_RS_rankscore=0.014;phyloP100way_vertebrate=-0.759;phyloP100way_vertebrate_rankscore=0.049;phyloP30way_mammalian=-0.551;phyloP30way_mammalian_rankscore=0.052;phastCons100way_vertebrate=0.364;phastCons100way_vertebrate_rankscore=0.259;phastCons30way_mammalian=0.459;phastCons30way_mammalian_rankscore=0.266;SiPhy_29way_logOdds=3.508;SiPhy_29way_logOdds_rankscore=0.073;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.031:46:12,0:16,0:30,0:23,23,0,0	0/1:40,40:0.458:80:14,8:10,13:25,21:20,20,20,20
chr1	44753700	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,20|7,6;DP=60;ECNT=2;GERMQ=59;MBQ=20,20;MFRL=169,141;MMQ=60,60;MPOS=42;NALOD=1.3;NLOD=5.34;POPAF=6;RPA=9,8;RU=T;STR;STRQ=11;TLOD=11.03;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIF2C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=1.4e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs779231614;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0.0004;ExAC_EAS=0.0004;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:29,0:0.048:29:6,0:11,0:18,0:0|1:44753700_CT_C:44753700:16,13,0,0	0|1:14,13:0.476:27:3,3:5,4:8,7:0|1:44753700_CT_C:44753700:7,7,7,6
chr1	44804542	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,26|1,1;DP=45;ECNT=2;GERMQ=88;MBQ=20,20;MFRL=209,104;MMQ=60,60;MPOS=15;NALOD=1.29;NLOD=5.42;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6.03;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLK3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:24,0:0.049:24:4,0:7,0:18,0:0|1:44804542_TC_T:44804542:9,15,0,0	0|1:18,2:0.125:20:2,1:5,0:13,1:0|1:44804542_TC_T:44804542:7,11,1,1
chr1	44804548	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,26|1,1;DP=44;ECNT=2;GERMQ=86;MBQ=20,20;MFRL=209,104;MMQ=60,60;MPOS=10;NALOD=1.29;NLOD=5.42;POPAF=6;TLOD=6.03;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLK3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:24,0:0.049:24:5,0:6,0:18,0:0|1:44804542_TC_T:44804542:9,15,0,0	0|1:18,2:0.125:20:3,1:6,0:13,1:0|1:44804542_TC_T:44804542:7,11,1,1
chr1	44958519	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,8|2,2;DP=29;ECNT=1;GERMQ=38;MBQ=20,20;MFRL=226,143;MMQ=60,60;MPOS=16;NALOD=1.02;NLOD=2.71;POPAF=6;TLOD=7.21;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EIF2B3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.088:14:6,0:3,0:9,0:9,5,0,0	0/1:9,4:0.3:13:4,1:2,1:6,2:6,3,2,2
chr1	44959209	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,30|2,1;DP=66;ECNT=1;GERMQ=93;MBQ=20,32;MFRL=178,157;MMQ=60,60;MPOS=49;NALOD=1.34;NLOD=5.71;POPAF=6;RPA=2,1;RU=G;STR;STRQ=93;TLOD=7.39;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EIF2B3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.045:28:7,0:7,0:19,0:13,15,0,0	0/1:30,3:0.115:33:10,0:5,2:22,2:15,15,2,1
chr1	45006823	.	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,62|2,2;DP=119;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=178,138;MMQ=60,60;MPOS=13;NALOD=1.62;NLOD=11.74;POPAF=6;TLOD=5.53;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HECTD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.023:56:23,0:14,0:39,0:22,34,0,0	0/1:51,4:0.088:55:11,1:18,1:30,2:23,28,2,2
chr1	45332667	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,50|10,12;DP=124;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,173;MMQ=60,60;MPOS=36;NALOD=1.55;NLOD=10.19;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=25.77;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MUTYH;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MUTYH:NM_001350650:exon7:c.167delG:p.G56Afs*41,MUTYH:NM_001350651:exon7:c.167delG:p.G56Afs*41,MUTYH:NM_001048171:exon8:c.512delG:p.G171Afs*41,MUTYH:NM_001048172:exon8:c.515delG:p.G172Afs*41,MUTYH:NM_001048173:exon8:c.512delG:p.G171Afs*41,MUTYH:NM_001048174:exon8:c.512delG:p.G171Afs*41,MUTYH:NM_001128425:exon8:c.596delG:p.G199Afs*41,MUTYH:NM_001293190:exon8:c.557delG:p.G186Afs*41,MUTYH:NM_001293191:exon8:c.545delG:p.G182Afs*41,MUTYH:NM_001293192:exon8:c.236delG:p.G79Afs*41,MUTYH:NM_001293196:exon8:c.236delG:p.G79Afs*41,MUTYH:NM_012222:exon8:c.587delG:p.G196Afs*41,MUTYH:NM_001293195:exon9:c.512delG:p.G171Afs*41;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.027:49:13,0:13,0:34,0:22,27,0,0	0/1:43,22:0.341:65:8,3:13,8:26,13:20,23,10,12
chr1	45569849	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,20|2,2;DP=64;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=186,118;MMQ=60,60;MPOS=21;NALOD=1.23;NLOD=4.77;POPAF=6;TLOD=6;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=AKR1A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.056:22:7,0:8,0:16,0:15,7,0,0	0/1:36,4:0.111:40:9,1:14,1:23,2:23,13,2,2
chr1	45623225	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=66,62|18,17;DP=171;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=172,150;MMQ=60,60;MPOS=33;NALOD=1.8;NLOD=18.61;POPAF=6;TLOD=86.82;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CCDC17;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CCDC17:NM_001114938:exon3:c.G485A:p.R162H,CCDC17:NM_001190182:exon3:c.G458A:p.R153H;cytoBand=1p34.1;SIFT_score=0.013;SIFT_converted_rankscore=0.539;SIFT_pred=D;SIFT4G_score=0.04;SIFT4G_converted_rankscore=0.562;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.973;Polyphen2_HVAR_rankscore=0.729;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.357;LRT_pred=N;MutationTaster_score=0.988;MutationTaster_converted_rankscore=0.407;MutationTaster_pred=D;MutationAssessor_score=2.28;MutationAssessor_rankscore=0.649;MutationAssessor_pred=M;FATHMM_score=1.09;FATHMM_converted_rankscore=0.392;FATHMM_pred=T;PROVEAN_score=-2.75;PROVEAN_converted_rankscore=0.584;PROVEAN_pred=D;VEST4_score=0.287;VEST4_rankscore=0.325;MetaSVM_score=-0.901;MetaSVM_rankscore=0.479;MetaSVM_pred=T;MetaLR_score=0.179;MetaLR_rankscore=0.526;MetaLR_pred=T;MetaRNN_score=0.295;MetaRNN_rankscore=0.470;MetaRNN_pred=T;M-CAP_score=0.054;M-CAP_rankscore=0.656;M-CAP_pred=D;REVEL_score=0.154;REVEL_rankscore=0.408;MutPred_score=0.15;MutPred_rankscore=0.053;MVP_score=0.410;MVP_rankscore=0.406;MPC_score=0.480;MPC_rankscore=0.470;PrimateAI_score=0.504;PrimateAI_rankscore=0.393;PrimateAI_pred=T;DEOGEN2_score=0.008;DEOGEN2_rankscore=0.078;DEOGEN2_pred=T;BayesDel_addAF_score=-0.081;BayesDel_addAF_rankscore=0.396;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.354;BayesDel_noAF_rankscore=0.387;BayesDel_noAF_pred=T;ClinPred_score=0.967;ClinPred_rankscore=0.677;ClinPred_pred=D;LIST-S2_score=0.853;LIST-S2_rankscore=0.538;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=2.955;CADD_raw_rankscore=0.511;CADD_phred=23.3;DANN_score=0.999;DANN_rankscore=0.962;fathmm-MKL_coding_score=0.165;fathmm-MKL_coding_rankscore=0.194;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.114;fathmm-XF_coding_rankscore=0.225;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.156;Eigen-raw_coding_rankscore=0.491;Eigen-PC-raw_coding=0.037;Eigen-PC-raw_coding_rankscore=0.415;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.498;integrated_fitCons_rankscore=0.201;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.52;GERP++_RS=5.52;GERP++_RS_rankscore=0.822;phyloP100way_vertebrate=1.355;phyloP100way_vertebrate_rankscore=0.337;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.251;phastCons100way_vertebrate_rankscore=0.249;phastCons30way_mammalian=0.026;phastCons30way_mammalian_rankscore=0.149;SiPhy_29way_logOdds=10.818;SiPhy_29way_logOdds_rankscore=0.458;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs571710456;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:84,0:0.015:84:30,0:26,0:62,0:44,40,0,0	0/1:44,35:0.447:79:18,12:7,8:25,20:22,22,18,17
chr1	45932132	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,5|6,1;DP=31;ECNT=1;GERMQ=39;MBQ=32,35;MFRL=200,199;MMQ=60,60;MPOS=12;NALOD=1.08;NLOD=3.31;POPAF=6;TLOD=20.53;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MAST2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.077:14:4,0:7,0:11,0:11,3,0,0	0/1:7,7:0.539:14:2,3:3,3:5,6:5,2,6,1
chr1	46067119	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,32|11,13;DP=85;ECNT=1;GERMQ=49;MBQ=20,20;MFRL=187,168;MMQ=60,60;MPOS=34;NALOD=1.21;NLOD=4.49;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=21.67;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=P3R3URF-PIK3R3\x3bPIK3R3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs745572630;ExAC_ALL=1.804e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.058:19:4,0:5,0:15,0:4,15,0,0	0/1:26,24:0.438:50:8,4:3,8:17,13:9,17,11,13
chr1	46184519	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,12|22,16;DP=68;ECNT=1;GERMQ=43;MBQ=20,20;MFRL=196,174;MMQ=60,60;MPOS=27;NALOD=0.604;NLOD=2.99;POPAF=2.99;RPA=9,8;RU=G;STR;STRQ=93;TLOD=44.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TSPAN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0007;AF_raw=0.0007;AF_male=0.0006;AF_female=0.0008;AF_afr=0.0011;AF_ami=0;AF_amr=0;AF_asj=0.0009;AF_eas=0.0119;AF_fin=0;AF_nfe=0.0001;AF_oth=0.0019;AF_sas=0.0007;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,2:0.101:21:6,0:8,1:15,1:10,9,1,1	0/1:7,36:0.82:43:3,12:1,9:4,21:4,3,21,15
chr1	46274079	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,19|8,6;DP=64;ECNT=1;GERMQ=48;MBQ=20,20;MFRL=176,173;MMQ=60,60;MPOS=25;NALOD=1.32;NLOD=5.99;POPAF=3.91;RPA=8,7;RU=T;STR;STRQ=8;TLOD=12.73;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RAD54L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=7.223e-05;AF_female=0.0001;AF_afr=4.779e-05;AF_ami=0;AF_amr=7.363e-05;AF_asj=0;AF_eas=0.0016;AF_fin=0;AF_nfe=0.0001;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs975440331;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.046:31:13,0:7,0:20,0:20,11,0,0	0/1:19,14:0.429:33:6,3:5,5:11,8:11,8,8,6
chr1	46405930	COSV99680395	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,16|2,1;DP=47;ECNT=1;GERMQ=92;MBQ=23,20;MFRL=218,196;MMQ=60,60;MPOS=39;NALOD=1.41;NLOD=7.52;POPAF=6;TLOD=5.91;AA=p.?;CDS=c.786-108C>T;CNT=1;GENE=FAAH;HGVSC=ENST00000243167.8:c.786-108C>T;HGVSG=1:g.46405930C>T;LEGACY_ID=COSN30572545;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FAAH;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p34.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs537130562;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.037:30:12,0:13,0:25,0:19,11,0,0	0/1:12,3:0.271:15:6,1:1,1:7,2:7,5,2,1
chr1	46843374	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,37|11,12;DP=108;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,154;MMQ=60,60;MPOS=48;NALOD=1.44;NLOD=7.83;POPAF=6;TLOD=42.11;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=CYP4Z2P;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.035:40:9,0:15,0:26,0:21,19,0,0	0/1:39,23:0.361:62:14,7:8,5:22,12:21,18,11,12
chr1	47115467	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,10|9,6;DP=44;ECNT=1;GERMQ=3;MBQ=20,20;MFRL=201,169;MMQ=60,60;MPOS=20;NALOD=0.472;NLOD=3.1;POPAF=2.02;RPA=11,10;RU=A;STR;STRQ=43;TLOD=8.64;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CYP4Z1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0011;AF_raw=0.0019;AF_male=0.0010;AF_female=0.0011;AF_afr=0.0029;AF_ami=0;AF_amr=0.0009;AF_asj=0;AF_eas=0;AF_fin=0.0008;AF_nfe=0.0002;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=0.00938498;AFR.sites.2015_08=0.0083;ALL.sites.2015_08=0.00938498;EUR.sites.2015_08=0.0179;AMR.sites.2015_08=0.0144;EUR.sites.2015_08=0.0179;EAS.sites.2015_08=0.001;SAS.sites.2015_08=0.0072;avsnp150=rs543056245;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,1:0.094:22:6,0:8,1:14,1:14,7,1,0	0/1:6,14:0.693:20:1,3:2,5:3,8:3,3,8,6
chr1	47225703	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,28|14,10;DP=92;ECNT=1;GERMQ=58;MBQ=20,20;MFRL=147,152;MMQ=60,60;MPOS=20;NALOD=1.38;NLOD=6.54;POPAF=4.61;RPA=6,5;RU=C;STR;STRQ=93;TLOD=27.73;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TAL1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TAL1:NM_001287347:exon3:c.185delG:p.G62Afs*13,TAL1:NM_001290403:exon3:c.185delG:p.G62Afs*13,TAL1:NM_001290405:exon3:c.185delG:p.G62Afs*13,TAL1:NM_001290404:exon4:c.185delG:p.G62Afs*13,TAL1:NM_003189:exon4:c.185delG:p.G62Afs*13;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.041:29:8,0:10,0:22,0:16,13,0,0	0/1:29,24:0.444:53:8,6:9,7:18,14:14,15,14,10
chr1	47794790	.	GTTTT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,12|3,2;DP=43;ECNT=1;GERMQ=29;MBQ=20,20;MFRL=186,163;MMQ=60,60;MPOS=48;NALOD=0.528;NLOD=3.65;POPAF=6;RPA=22,18;RU=T;STR;STRQ=93;TLOD=6.29;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TRABD2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0005;AF_female=0.0004;AF_afr=0.0011;AF_ami=0;AF_amr=0.0003;AF_asj=0;AF_eas=0;AF_fin=0.0002;AF_nfe=0.0002;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.063:20:2,0:7,0:12,0:9,11,0,0	0/1:3,5:0.576:8:1,2:1,1:2,3:2,1,3,2
chr1	48224779	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=70,79|14,16;DP=180;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,151;MMQ=60,60;MPOS=20;NALOD=1.64;NLOD=12.64;POPAF=6;TLOD=60.1;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLC5A9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SLC5A9:NM_001011547:exon2:c.C218T:p.S73F,SLC5A9:NM_001135181:exon2:c.C218T:p.S73F;cytoBand=1p33;SIFT_score=0.015;SIFT_converted_rankscore=0.682;SIFT_pred=D;SIFT4G_score=0.037;SIFT4G_converted_rankscore=0.521;SIFT4G_pred=D;Polyphen2_HDIV_score=0.961;Polyphen2_HDIV_rankscore=0.554;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.866;Polyphen2_HVAR_rankscore=0.616;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.805;MutationAssessor_rankscore=0.818;MutationAssessor_pred=M;FATHMM_score=-2.59;FATHMM_converted_rankscore=0.898;FATHMM_pred=D;PROVEAN_score=-4.24;PROVEAN_converted_rankscore=0.768;PROVEAN_pred=D;VEST4_score=0.684;VEST4_rankscore=0.702;MetaSVM_score=0.809;MetaSVM_rankscore=0.945;MetaSVM_pred=D;MetaLR_score=0.820;MetaLR_rankscore=0.939;MetaLR_pred=D;MetaRNN_score=0.874;MetaRNN_rankscore=0.867;MetaRNN_pred=D;M-CAP_score=0.164;M-CAP_rankscore=0.844;M-CAP_pred=D;REVEL_score=0.771;REVEL_rankscore=0.924;MutPred_score=0.719;MutPred_rankscore=0.854;MVP_score=0.508;MVP_rankscore=0.505;MPC_score=0.840;MPC_rankscore=0.680;PrimateAI_score=0.618;PrimateAI_rankscore=0.554;PrimateAI_pred=T;DEOGEN2_score=0.100;DEOGEN2_rankscore=0.405;DEOGEN2_pred=T;BayesDel_addAF_score=0.248;BayesDel_addAF_rankscore=0.784;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.118;BayesDel_noAF_rankscore=0.781;BayesDel_noAF_pred=D;ClinPred_score=0.992;ClinPred_rankscore=0.825;ClinPred_pred=D;LIST-S2_score=0.935;LIST-S2_rankscore=0.763;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=3.551;CADD_raw_rankscore=0.654;CADD_phred=24.9;DANN_score=0.998;DANN_rankscore=0.897;fathmm-MKL_coding_score=0.869;fathmm-MKL_coding_rankscore=0.463;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.753;fathmm-XF_coding_rankscore=0.694;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.637;Eigen-raw_coding_rankscore=0.755;Eigen-PC-raw_coding=0.556;Eigen-PC-raw_coding_rankscore=0.718;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.59;GERP++_RS=4.59;GERP++_RS_rankscore=0.563;phyloP100way_vertebrate=1.228;phyloP100way_vertebrate_rankscore=0.322;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.022;phastCons100way_vertebrate_rankscore=0.198;phastCons30way_mammalian=0.999;phastCons30way_mammalian_rankscore=0.704;SiPhy_29way_logOdds=13.081;SiPhy_29way_logOdds_rankscore=0.585;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:68,0:0.023:68:18,0:21,0:42,0:30,38,0,0	0/1:81,30:0.279:111:20,7:22,8:43,16:40,41,14,16
chr1	48298918	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,46|2,2;DP=82;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=171,144;MMQ=60,60;MPOS=46;NALOD=1.46;NLOD=8.43;POPAF=6;TLOD=6.08;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SPATA6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.033:38:11,0:12,0:28,0:12,26,0,0	0/1:38,4:0.125:42:8,2:10,0:20,2:18,20,2,2
chr1	48305794	COSV64057977	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,41|6,5;DP=102;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=148,172;MMQ=60,60;MPOS=41;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=23.73;AA=p.E427K,p.E413K,p.E411K;CDS=c.1279G>A,c.1237G>A,c.1231G>A;CNT=1,1,1;GENE=SPATA6,SPATA6_ENST00000396199,SPATA6_ENST00000371843;HGVSC=ENST00000371847.7:c.1279G>A,ENST00000396199.7:c.1237G>A,ENST00000371843.7:c.1231G>A;HGVSG=1:g.48305794C>T,1:g.48305794C>T,1:g.48305794C>T;HGVSP=ENSP00000360913.3:p.Glu427Lys,ENSP00000379502.4:p.Glu413Lys,ENSP00000360909.3:p.Glu411Lys;LEGACY_ID=COSM172689,COSM172689,COSM172689;STRAND=-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SPATA6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SPATA6:NM_001286239:exon11:c.G1237A:p.E413K,SPATA6:NM_001286238:exon12:c.G1231A:p.E411K,SPATA6:NM_019073:exon12:c.G1279A:p.E427K;cytoBand=1p33;SIFT_score=0.235;SIFT_converted_rankscore=0.222;SIFT_pred=T;SIFT4G_score=0.247;SIFT4G_converted_rankscore=0.409;SIFT4G_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.988;Polyphen2_HVAR_rankscore=0.780;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.418;LRT_pred=D;MutationTaster_score=0.615;MutationTaster_converted_rankscore=0.327;MutationTaster_pred=D;MutationAssessor_score=0.805;MutationAssessor_rankscore=0.202;MutationAssessor_pred=L;FATHMM_score=2.54;FATHMM_converted_rankscore=0.139;FATHMM_pred=T;PROVEAN_score=-0.53;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST4_score=0.47;VEST4_rankscore=0.579;MetaSVM_score=-1.124;MetaSVM_rankscore=0.021;MetaSVM_pred=T;MetaLR_score=0.051;MetaLR_rankscore=0.218;MetaLR_pred=T;MetaRNN_score=0.188;MetaRNN_rankscore=0.344;MetaRNN_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.268;M-CAP_pred=T;REVEL_score=0.115;REVEL_rankscore=0.327;MutPred_score=0.146;MutPred_rankscore=0.049;MVP_score=0.061;MVP_rankscore=0.051;MPC_score=0.355;MPC_rankscore=0.372;PrimateAI_score=0.615;PrimateAI_rankscore=0.550;PrimateAI_pred=T;DEOGEN2_score=0.006;DEOGEN2_rankscore=0.094;DEOGEN2_pred=T;BayesDel_addAF_score=-0.151;BayesDel_addAF_rankscore=0.282;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.285;BayesDel_noAF_rankscore=0.463;BayesDel_noAF_pred=T;ClinPred_score=0.838;ClinPred_rankscore=0.492;ClinPred_pred=D;LIST-S2_score=0.838;LIST-S2_rankscore=0.510;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=3.309;CADD_raw_rankscore=0.592;CADD_phred=24.1;DANN_score=0.997;DANN_rankscore=0.816;fathmm-MKL_coding_score=0.707;fathmm-MKL_coding_rankscore=0.347;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.214;fathmm-XF_coding_rankscore=0.340;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.157;Eigen-raw_coding_rankscore=0.492;Eigen-PC-raw_coding=0.211;Eigen-PC-raw_coding_rankscore=0.505;GenoCanyon_score=0.021;GenoCanyon_rankscore=0.133;integrated_fitCons_score=0.638;integrated_fitCons_rankscore=0.432;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.55;GERP++_RS=4.55;GERP++_RS_rankscore=0.554;phyloP100way_vertebrate=2.450;phyloP100way_vertebrate_rankscore=0.446;phyloP30way_mammalian=1.010;phyloP30way_mammalian_rankscore=0.380;phastCons100way_vertebrate=0.936;phastCons100way_vertebrate_rankscore=0.325;phastCons30way_mammalian=0.997;phastCons30way_mammalian_rankscore=0.620;SiPhy_29way_logOdds=13.000;SiPhy_29way_logOdds_rankscore=0.581;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs755315175;ExAC_ALL=1.652e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.069e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.03:48:18,0:13,0:31,0:27,21,0,0	0/1:40,11:0.258:51:10,3:11,4:22,7:20,20,6,5
chr1	48353434	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,24|5,5;DP=65;ECNT=1;GERMQ=62;MBQ=20,20;MFRL=168,144;MMQ=60,60;MPOS=24;NALOD=0.74;NLOD=5.41;POPAF=6;RPA=12,10;RU=A;STR;STRQ=93;TLOD=7.89;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SPATA6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.934e-06;AF_raw=4.48e-05;AF_male=0;AF_female=1.52e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.05:31:9,0:8,0:18,0:17,14,0,0	0/1:20,10:0.35:30:4,4:6,1:10,5:10,10,5,5
chr1	49845871	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,25|3,4;DP=60;ECNT=1;GERMQ=73;MBQ=20,20;MFRL=184,162;MMQ=60,60;MPOS=24;NALOD=1.29;NLOD=5.42;POPAF=6;TLOD=12.69;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=AGBL4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p33;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.049:30:7,0:11,0:18,0:14,16,0,0	0/1:20,7:0.277:27:9,4:3,0:12,4:11,9,3,4
chr1	51312204	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,39|9,10;DP=95;ECNT=1;GERMQ=85;MBQ=20,20;MFRL=170,165;MMQ=60,60;MPOS=36;NALOD=1.37;NLOD=6.57;POPAF=6;RPA=5,4;RU=A;STR;STRQ=93;TLOD=18.44;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TTC39A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.041:33:10,0:6,0:22,0:14,19,0,0	0/1:36,19:0.344:55:5,5:12,4:20,10:16,20,9,10
chr1	51447900	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,10|8,7;DP=48;ECNT=1;GERMQ=18;MBQ=20,20;MFRL=186,166;MMQ=60,60;MPOS=34;NALOD=1.13;NLOD=3.58;POPAF=3.65;RPA=9,8;RU=A;STR;STRQ=19;TLOD=12.61;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EPS15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0002;AF_afr=0.0006;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1031320957;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.07:15:3,0:8,0:12,0:12,3,0,0	0/1:16,15:0.476:31:2,6:7,2:9,8:9,7,8,7
chr1	51468550	COSV65531582	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,46|29,25;DP=151;ECNT=1;GERMQ=89;MBQ=20,20;MFRL=168,142;MMQ=60,60;MPOS=36;NALOD=1.49;NLOD=9.03;POPAF=6;TLOD=120.03;AA=p.R78C,p.R78C;CDS=c.232C>T,c.232C>T;CNT=1,1;GENE=EPS15,EPS15_ENST00000371730;HGVSC=ENST00000371733.7:c.232C>T,ENST00000371730.6:c.232C>T;HGVSG=1:g.51468550G>A,1:g.51468550G>A;HGVSP=ENSP00000360798.3:p.Arg78Cys,ENSP00000360795.2:p.Arg78Cys;LEGACY_ID=COSM256868,COSM256868;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EPS15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EPS15:NM_001981:exon5:c.C232T:p.R78C;cytoBand=1p32.3;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=0.019;Polyphen2_HDIV_rankscore=0.619;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.473;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.86;MutationAssessor_rankscore=0.830;MutationAssessor_pred=M;FATHMM_score=1.1;FATHMM_converted_rankscore=0.391;FATHMM_pred=T;PROVEAN_score=-5.44;PROVEAN_converted_rankscore=0.854;PROVEAN_pred=D;VEST4_score=0.918;VEST4_rankscore=0.938;MetaSVM_score=-0.719;MetaSVM_rankscore=0.595;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_rankscore=0.492;MetaLR_pred=T;MetaRNN_score=0.699;MetaRNN_rankscore=0.723;MetaRNN_pred=D;M-CAP_score=0.075;M-CAP_rankscore=0.721;M-CAP_pred=D;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.605;MVP_rankscore=0.602;MPC_score=0.553;MPC_rankscore=0.521;PrimateAI_score=0.742;PrimateAI_rankscore=0.732;PrimateAI_pred=T;DEOGEN2_score=0.230;DEOGEN2_rankscore=0.720;DEOGEN2_pred=T;BayesDel_addAF_score=-0.003;BayesDel_addAF_rankscore=0.512;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.243;BayesDel_noAF_rankscore=0.505;BayesDel_noAF_pred=T;ClinPred_score=0.973;ClinPred_rankscore=0.701;ClinPred_pred=D;LIST-S2_score=0.934;LIST-S2_rankscore=0.752;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.459;CADD_raw_rankscore=0.908;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.974;fathmm-MKL_coding_score=0.882;fathmm-MKL_coding_rankscore=0.480;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.446;fathmm-XF_coding_rankscore=0.502;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.259;Eigen-raw_coding_rankscore=0.541;Eigen-PC-raw_coding=0.267;Eigen-PC-raw_coding_rankscore=0.536;GenoCanyon_score=0.001;GenoCanyon_rankscore=0.081;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.76;GERP++_RS=2.74;GERP++_RS_rankscore=0.314;phyloP100way_vertebrate=3.040;phyloP100way_vertebrate_rankscore=0.495;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.998;phastCons30way_mammalian_rankscore=0.659;SiPhy_29way_logOdds=9.140;SiPhy_29way_logOdds_rankscore=0.361;Interpro_domain=EH_domain|EH_domain|EF-hand_domain|EH_domain|EF-hand_domain|EH_domain\x3bEH_domain|EH_domain|EF-hand_domain|EH_domain|EF-hand_domain|EH_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs777135649;ExAC_ALL=8.284e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.507e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.031:42:17,0:13,0:30,0:22,20,0,0	0/1:53,54:0.5:107:10,16:16,13:29,29:27,26,29,25
chr1	51730106	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,20|1,1;DP=31;ECNT=1;GERMQ=60;MBQ=36,38;MFRL=171,123;MMQ=60,60;MPOS=29;NALOD=1.2;NLOD=4.51;POPAF=6;TLOD=6.71;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=OSBPL9;GeneDetail.refGene=NM_148905:c.-20042C>T\x3bNM_001330580:c.-20042C>T\x3bNM_148904:c.-20042C>T\x3bNM_001350210:c.-30647C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=0.001;SAS.sites.2015_08=.;avsnp150=rs542268786;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.059:20:8,0:4,0:15,0:6,14,0,0	0/1:9,2:0.222:11:1,0:3,1:6,1:3,6,1,1
chr1	51836091	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,37|8,7;DP=94;ECNT=1;GERMQ=69;MBQ=20,20;MFRL=167,139;MMQ=60,60;MPOS=45;NALOD=0.909;NLOD=6.29;POPAF=3.53;RPA=7,6;RU=A;STR;STRQ=93;TLOD=11.95;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NRDC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0003;AF_afr=0.0007;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=7.752e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs767003822;ExAC_ALL=0.0005;ExAC_AFR=0.0009;ExAC_AMR=0.0023;ExAC_EAS=0.0005;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.043:36:8,0:11,0:21,0:19,17,0,0	0/1:40,15:0.279:55:9,3:10,5:22,8:20,20,8,7
chr1	52162884	.	CAG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,26|8,7;DP=68;ECNT=1;GERMQ=56;MBQ=20,20;MFRL=156,153;MMQ=60,60;MPOS=39;NALOD=1.2;NLOD=4.52;POPAF=6;RPA=2,1;RU=AG;STR;STRQ=93;TLOD=34.84;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZFYVE9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.059:23:10,0:3,0:15,0:12,11,0,0	0/1:30,15:0.333:45:5,6:11,2:17,8:15,15,8,7
chr1	52490697	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,21|8,5;DP=60;ECNT=1;GERMQ=67;MBQ=20,20;MFRL=168,177;MMQ=60,60;MPOS=20;NALOD=1.23;NLOD=4.8;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=14.24;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TUT4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs778014238;ExAC_ALL=9.874e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.831e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.056:20:7,0:6,0:16,0:12,8,0,0	0/1:27,13:0.36:40:8,5:6,3:15,8:14,13,8,5
chr1	52897497	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,71|14,14;DP=173;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=150,141;MMQ=60,60;MPOS=33;NALOD=1.61;NLOD=12.03;POPAF=4.31;TLOD=55.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ECHDC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=5.759e-05;AF_female=0.0002;AF_afr=0;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0.0026;AF_fin=0;AF_nfe=6.194e-05;AF_oth=0.0009;AF_sas=0;ALL.sites.2015_08=0.00319489;AFR.sites.2015_08=.;ALL.sites.2015_08=0.00319489;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=0.0159;SAS.sites.2015_08=.;avsnp150=rs2298144;ExAC_ALL=0.0003;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0032;ExAC_FIN=0;ExAC_NFE=4.495e-05;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:63,0:0.024:63:17,0:21,0:40,0:31,32,0,0	0/1:77,28:0.28:105:21,9:18,6:40,15:38,39,14,14
chr1	53071537	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=57,46|2,2;DP=110;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=159,91;MMQ=60,60;MPOS=74;NALOD=1.41;NLOD=7.22;POPAF=6;TLOD=5.42;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PODN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PODN:NM_153703:exon3:c.C315T:p.N105N,PODN:NM_001199081:exon4:c.C315T:p.N105N,PODN:NM_001199080:exon5:c.C315T:p.N105N;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.038:40:14,0:9,0:24,0:22,18,0,0	0/1:63,4:0.073:67:15,2:21,0:37,2:35,28,2,2
chr1	53081937	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,20|7,6;DP=67;ECNT=1;GERMQ=63;MBQ=20,20;MFRL=169,179;MMQ=60,60;MPOS=30;NALOD=1.23;NLOD=4.79;POPAF=6;RPA=5,4;RU=G;STR;STRQ=93;TLOD=12.68;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PODN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.988e-06;AF_raw=6.977e-06;AF_male=0;AF_female=1.356e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.55e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.056:28:8,0:8,0:16,0:16,12,0,0	0/1:24,13:0.32:37:6,3:10,4:16,7:16,8,7,6
chr1	53506696	COSV100390212	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=82,72|16,22;DP=195;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,162;MMQ=60,60;MPOS=38;NALOD=1.69;NLOD=14.45;POPAF=4.61;TLOD=87.06;AA=p.E596K,p.E771K;CDS=c.1786G>A,c.2311G>A;CNT=1,1;GENE=GLIS1,GLIS1_ENST00000628545;HGVSC=ENST00000312233.4:c.1786G>A,ENST00000628545.1:c.2311G>A;HGVSG=1:g.53506696C>T,1:g.53506696C>T;HGVSP=ENSP00000309653.2:p.Glu596Lys,ENSP00000486112.1:p.Glu771Lys;LEGACY_ID=COSM8569392,COSM8569392;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GLIS1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GLIS1:NM_147193:exon10:c.G1786A:p.E596K,GLIS1:NM_001367484:exon11:c.G2311A:p.E771K;cytoBand=1p32.3;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.01;SIFT4G_converted_rankscore=0.668;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.797;Polyphen2_HVAR_rankscore=0.581;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.391;LRT_pred=N;MutationTaster_score=0.967;MutationTaster_converted_rankscore=0.386;MutationTaster_pred=D;MutationAssessor_score=1.1;MutationAssessor_rankscore=0.280;MutationAssessor_pred=L;FATHMM_score=2.12;FATHMM_converted_rankscore=0.197;FATHMM_pred=T;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST4_score=0.293;VEST4_rankscore=0.373;MetaSVM_score=-1.097;MetaSVM_rankscore=0.045;MetaSVM_pred=T;MetaLR_score=0.069;MetaLR_rankscore=0.283;MetaLR_pred=T;MetaRNN_score=0.216;MetaRNN_rankscore=0.381;MetaRNN_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.346;M-CAP_pred=T;REVEL_score=0.157;REVEL_rankscore=0.414;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.524;MVP_rankscore=0.521;MPC_score=0.087;MPC_rankscore=0.098;PrimateAI_score=0.614;PrimateAI_rankscore=0.549;PrimateAI_pred=T;DEOGEN2_score=0.232;DEOGEN2_rankscore=0.599;DEOGEN2_pred=T;BayesDel_addAF_score=-0.291;BayesDel_addAF_rankscore=0.095;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.391;BayesDel_noAF_rankscore=0.344;BayesDel_noAF_pred=T;ClinPred_score=0.260;ClinPred_rankscore=0.233;ClinPred_pred=T;LIST-S2_score=0.903;LIST-S2_rankscore=0.661;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.718;CADD_raw_rankscore=0.699;CADD_phred=25.5;DANN_score=0.998;DANN_rankscore=0.890;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.645;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.395;fathmm-XF_coding_rankscore=0.472;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.418;Eigen-raw_coding_rankscore=0.624;Eigen-PC-raw_coding=0.419;Eigen-PC-raw_coding_rankscore=0.628;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.407;integrated_fitCons_score=0.554;integrated_fitCons_rankscore=0.289;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.3;GERP++_RS=4.3;GERP++_RS_rankscore=0.505;phyloP100way_vertebrate=3.225;phyloP100way_vertebrate_rankscore=0.509;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.992;phastCons100way_vertebrate_rankscore=0.376;phastCons30way_mammalian=0.719;phastCons30way_mammalian_rankscore=0.314;SiPhy_29way_logOdds=12.451;SiPhy_29way_logOdds_rankscore=0.550;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs147342893;ExAC_ALL=4.992e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=4.555e-05;ExAC_OTH=0;ExAC_SAS=6.058e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:83,0:0.02:83:18,0:28,0:48,0:43,40,0,0	0/1:71,38:0.369:109:19,13:21,8:40,23:39,32,16,22
chr1	53804059	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,43|6,11;DP=102;ECNT=1;GERMQ=91;MBQ=20,20;MFRL=179,166;MMQ=60,60;MPOS=16;NALOD=1.41;NLOD=7.2;POPAF=6;RPA=4,3;RU=A;STR;STRQ=93;TLOD=19.2;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NDC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.037:33:9,0:7,0:24,0:12,21,0,0	0/1:33,17:0.338:50:8,5:9,4:22,11:11,22,6,11
chr1	53838359	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,22|3,5;DP=39;ECNT=1;GERMQ=51;MBQ=33,20;MFRL=180,193;MMQ=60,60;MPOS=26;NALOD=1.2;NLOD=4.51;POPAF=6;TLOD=19.09;ANNOVAR_DATE=2020-06-08;Func.refGene=upstream;Gene.refGene=NDC1;GeneDetail.refGene=dist\x3d63;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.059:21:8,0:7,0:15,0:7,14,0,0	0/1:9,8:0.4:17:5,2:1,3:8,5:1,8,3,5
chr1	53860209	.	GTT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,23|3,5;DP=48;ECNT=1;GERMQ=47;MBQ=20,20;MFRL=209,183;MMQ=60,60;MPOS=30;NALOD=1.21;NLOD=4.2;POPAF=6;RPA=7,5;RU=T;STR;STRQ=93;TLOD=15.66;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=YIPF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.059:18:7,0:2,0:14,0:5,13,0,0	0/1:15,8:0.353:23:4,1:1,2:10,5:5,10,3,5
chr1	53883297	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,42|6,7;DP=90;ECNT=1;GERMQ=92;MBQ=20,20;MFRL=168,190;MMQ=60,60;MPOS=48;NALOD=1.4;NLOD=7.22;POPAF=4.61;TLOD=26.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=YIPF1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.982e-06;AF_raw=6.976e-06;AF_male=0;AF_female=1.355e-05;AF_afr=2.381e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs150610861;ExAC_ALL=9.253e-06;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.038:37:14,0:9,0:24,0:16,21,0,0	0/1:40,13:0.267:53:14,5:7,2:21,7:19,21,6,7
chr1	53962405	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,44|1,2;DP=96;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=153,140;MMQ=60,60;MPOS=33;NALOD=1.23;NLOD=4.51;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6.43;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LRRC42;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LRRC42:NM_052940:exon6:c.924delC:p.Q309Rfs*9,LRRC42:NM_001256409:exon7:c.924delC:p.Q309Rfs*9;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.056:27:6,0:9,0:15,0:14,13,0,0	0/1:61,3:0.085:64:17,1:13,0:31,2:30,31,1,2
chr1	54036722	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,34|13,16;DP=117;ECNT=1;GERMQ=56;MBQ=20,20;MFRL=181,202;MMQ=60,60;MPOS=53;NALOD=1.49;NLOD=8;POPAF=3.03;RPA=10,9;RU=A;STR;STRQ=93;TLOD=27.75;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM59;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=8.842e-05;AF_raw=0.0002;AF_male=9.191e-05;AF_female=8.519e-05;AF_afr=0.0003;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.606e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs776808153;ExAC_ALL=0.0228;ExAC_AFR=0.0133;ExAC_AMR=0.0218;ExAC_EAS=0.0203;ExAC_FIN=0.0093;ExAC_NFE=0.0280;ExAC_OTH=0.0192;ExAC_SAS=0.0168;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.032:49:13,0:12,0:27,0:25,24,0,0	0/1:19,29:0.627:48:5,9:4,6:10,17:9,10,13,16
chr1	54205445	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,29|5,7;DP=63;ECNT=1;GERMQ=55;MBQ=20,20;MFRL=180,178;MMQ=60,60;MPOS=40;NALOD=1.34;NLOD=6.28;POPAF=4.61;RPA=8,7;RU=T;STR;STRQ=7;TLOD=14.26;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MRPL37;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.103e-05;AF_raw=2.095e-05;AF_male=0;AF_female=4.076e-05;AF_afr=7.185e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs763093796;ExAC_ALL=0.0002;ExAC_AFR=0.0001;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.044:30:6,0:8,0:21,0:9,21,0,0	0/1:13,12:0.498:25:4,2:1,4:8,8:5,8,5,7
chr1	54614865	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,52|10,13;DP=109;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,162;MMQ=60,60;MPOS=19;NALOD=1.52;NLOD=9.63;POPAF=6;TLOD=49.05;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ACOT11\x3bFAM151A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.029:48:8,0:18,0:32,0:16,32,0,0	0/1:34,23:0.4:57:10,7:10,5:20,13:14,20,10,13
chr1	54871445	COSV64875179	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,65|26,22;DP=189;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,147;MMQ=60,60;MPOS=30;NALOD=1.6;NLOD=11.73;POPAF=4.61;TLOD=104.2;AA=p.R172W,p.R261W;CDS=c.514C>T,c.781C>T;CNT=2,2;GENE=DHCR24_ENST00000535035,DHCR24;HGVSC=ENST00000535035.5:c.514C>T,ENST00000371269.7:c.781C>T;HGVSG=1:g.54871445G>A,1:g.54871445G>A;HGVSP=ENSP00000440191.2:p.Arg172Trp,ENSP00000360316.3:p.Arg261Trp;LEGACY_ID=COSM2194246,COSM2194246;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DHCR24;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DHCR24:NM_014762:exon5:c.C781T:p.R261W;cytoBand=1p32.3;SIFT_score=0.014;SIFT_converted_rankscore=0.532;SIFT_pred=D;SIFT4G_score=0.017;SIFT4G_converted_rankscore=0.603;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.702;Polyphen2_HVAR_rankscore=0.542;Polyphen2_HVAR_pred=P;LRT_score=0.042;LRT_converted_rankscore=0.239;LRT_pred=N;MutationTaster_score=0.926;MutationTaster_converted_rankscore=0.379;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_rankscore=0.364;MutationAssessor_pred=L;FATHMM_score=-3.14;FATHMM_converted_rankscore=0.929;FATHMM_pred=D;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.639;PROVEAN_pred=D;VEST4_score=0.349;VEST4_rankscore=0.391;MetaSVM_score=0.671;MetaSVM_rankscore=0.928;MetaSVM_pred=D;MetaLR_score=0.776;MetaLR_rankscore=0.924;MetaLR_pred=D;MetaRNN_score=0.452;MetaRNN_rankscore=0.588;MetaRNN_pred=T;M-CAP_score=0.385;M-CAP_rankscore=0.931;M-CAP_pred=D;REVEL_score=0.409;REVEL_rankscore=0.724;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.704;MVP_rankscore=0.701;MPC_score=0.667;MPC_rankscore=0.593;PrimateAI_score=0.313;PrimateAI_rankscore=0.123;PrimateAI_pred=T;DEOGEN2_score=0.667;DEOGEN2_rankscore=0.901;DEOGEN2_pred=D;BayesDel_addAF_score=-0.065;BayesDel_addAF_rankscore=0.421;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.150;BayesDel_noAF_rankscore=0.592;BayesDel_noAF_pred=T;ClinPred_score=0.866;ClinPred_rankscore=0.516;ClinPred_pred=D;LIST-S2_score=0.935;LIST-S2_rankscore=0.758;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.929;CADD_raw_rankscore=0.762;CADD_phred=26.5;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.889;fathmm-MKL_coding_rankscore=0.491;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.772;fathmm-XF_coding_rankscore=0.706;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.235;Eigen-raw_coding_rankscore=0.529;Eigen-PC-raw_coding=0.254;Eigen-PC-raw_coding_rankscore=0.529;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.414;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.31;GERP++_RS=4.4;GERP++_RS_rankscore=0.524;phyloP100way_vertebrate=2.719;phyloP100way_vertebrate_rankscore=0.469;phyloP30way_mammalian=-0.573;phyloP30way_mammalian_rankscore=0.049;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=12.856;SiPhy_29way_logOdds_rankscore=0.573;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=5.584e-05;AF_raw=5.58e-05;AF_male=5.762e-05;AF_female=5.417e-05;AF_afr=7.138e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.195e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs147896894;ExAC_ALL=1.648e-05;ExAC_AFR=9.614e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.057e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.024:56:22,0:17,0:39,0:32,24,0,0	0/1:81,48:0.386:129:22,15:17,11:42,26:40,41,26,22
chr1	55097723	.	G	GAA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,32|7,7;DP=81;ECNT=1;GERMQ=57;MBQ=20,20;MFRL=188,182;MMQ=60,60;MPOS=36;NALOD=0.995;NLOD=7.22;POPAF=6;RPA=10,12;RU=A;STR;STRQ=93;TLOD=11.25;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USP24;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.036:36:10,0:6,0:24,0:13,23,0,0	0/1:16,14:0.475:30:5,3:3,4:9,8:7,9,7,7
chr1	55139019	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,31|16,21;DP=115;ECNT=1;GERMQ=6;MBQ=20,20;MFRL=178,149;MMQ=60,60;MPOS=40;NALOD=0.232;NLOD=4.59;POPAF=1.64;RPA=11,10;RU=A;STR;STRQ=93;TLOD=23.33;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USP24;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0006;AF_raw=0.0029;AF_male=0.0007;AF_female=0.0005;AF_afr=0.0006;AF_ami=0;AF_amr=0.0008;AF_asj=0.0009;AF_eas=0.0003;AF_fin=0.0024;AF_nfe=0.0004;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs761398459;ExAC_ALL=0.2134;ExAC_AFR=0.1403;ExAC_AMR=0.2477;ExAC_EAS=0.1487;ExAC_FIN=0.0851;ExAC_NFE=0.2039;ExAC_OTH=0.1875;ExAC_SAS=0.3447;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,3:0.075:40:16,0:5,1:22,1:19,18,1,2	0/1:28,34:0.561:62:6,9:7,8:15,19:15,13,15,19
chr1	56753912	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=65,75|17,18;DP=179;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,148;MMQ=60,60;MPOS=46;NALOD=1.6;NLOD=11.67;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=27.51;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FYB2;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=FYB2:NM_001004303:exon8:c.1153delA:p.M385*;cytoBand=1p32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs776828972;ExAC_ALL=8.329e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:67,0:0.024:67:17,0:17,0:39,0:30,37,0,0	0/1:73,35:0.326:108:19,11:17,6:38,18:35,38,17,18
chr1	56758627	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,8|1,1;DP=34;ECNT=2;GERMQ=67;MBQ=20,20;MFRL=193,155;MMQ=60,60;MPOS=42;NALOD=1;NLOD=2.71;POPAF=6;RPA=6,5;RU=T;STR;STRQ=93;TLOD=4.82;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FYB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.985e-06;AF_raw=6.976e-06;AF_male=1.442e-05;AF_female=0;AF_afr=2.381e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:11,0:0.091:11:4,0:5,0:9,0:0|1:56758627_AT_A:56758627:9,2,0,0	0|1:21,2:0.111:23:10,0:4,1:15,1:0|1:56758627_AT_A:56758627:15,6,1,1
chr1	58685266	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,39|5,7;DP=90;ECNT=2;GERMQ=53;MBQ=20,20;MFRL=168,192;MMQ=60,60;MPOS=50;NALOD=0.393;NLOD=3.48;POPAF=3.61;RPA=3,2;RU=G;STR;STRQ=93;TLOD=6.26;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MYSM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.276e-05;AF_raw=5.625e-05;AF_male=1.476e-05;AF_female=6.891e-05;AF_afr=7.325e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.691e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.110224;AFR.sites.2015_08=0.1732;ALL.sites.2015_08=0.110224;EUR.sites.2015_08=0.0408;AMR.sites.2015_08=0.0836;EUR.sites.2015_08=0.0408;EAS.sites.2015_08=0.0585;SAS.sites.2015_08=0.1687;avsnp150=rs111596168;ExAC_ALL=0.0008;ExAC_AFR=0.0008;ExAC_AMR=0.0017;ExAC_EAS=0.0017;ExAC_FIN=0.0013;ExAC_NFE=0.0008;ExAC_OTH=0;ExAC_SAS=0.0007;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,2:0.09:26:3,0:6,1:18,1:7,17,1,1	0/1:39,10:0.228:49:9,3:11,2:22,6:17,22,4,6
chr1	59378836	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,56|6,8;DP=115;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,123;MMQ=60,60;MPOS=34;NALOD=1.46;NLOD=8.42;POPAF=6;TLOD=27.89;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FGGY;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FGGY:NM_001244714:exon3:c.C289A:p.R97R,FGGY:NM_001350795:exon3:c.C289A:p.R97R,FGGY:NM_001350796:exon4:c.C217A:p.R73R,FGGY:NM_001350797:exon4:c.C151A:p.R51R,FGGY:NM_001350798:exon4:c.C217A:p.R73R,FGGY:NM_001350799:exon4:c.C217A:p.R73R,FGGY:NM_001113411:exon5:c.C553A:p.R185R,FGGY:NM_001350790:exon5:c.C553A:p.R185R,FGGY:NM_001350791:exon5:c.C553A:p.R185R,FGGY:NM_001350794:exon5:c.C553A:p.R185R,FGGY:NM_018291:exon5:c.C553A:p.R185R,FGGY:NM_001350792:exon7:c.C385A:p.R129R,FGGY:NM_001350793:exon7:c.C385A:p.R129R;cytoBand=1p32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,0:0.033:43:6,0:15,0:28,0:19,24,0,0	0/1:57,14:0.209:71:14,4:14,2:33,8:25,32,6,8
chr1	59860169	.	T	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,24|7,8;DP=80;ECNT=1;GERMQ=76;MBQ=20,20;MFRL=169,135;MMQ=60,60;MPOS=40;NALOD=1.31;NLOD=5.72;POPAF=6;TLOD=28.58;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HOOK1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.047:29:6,0:13,0:19,0:19,10,0,0	0/1:31,15:0.331:46:6,5:11,2:17,8:17,14,7,8
chr1	60025507	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,43|12,16;DP=133;ECNT=1;GERMQ=51;MBQ=20,20;MFRL=168,168;MMQ=60,60;MPOS=45;NALOD=1.06;NLOD=7.02;POPAF=3.15;RPA=9,8;RU=A;STR;STRQ=48;TLOD=24.81;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=C1orf87;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.112e-05;AF_raw=6.296e-05;AF_male=2.909e-05;AF_female=1.365e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.113e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs775452923;ExAC_ALL=0.0016;ExAC_AFR=0.0006;ExAC_AMR=0.0010;ExAC_EAS=0.0010;ExAC_FIN=0.0002;ExAC_NFE=0.0016;ExAC_OTH=0;ExAC_SAS=0.0035;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,2:0.061:51:14,1:14,1:31,2:26,23,0,2	0/1:36,26:0.434:62:9,5:8,7:20,15:16,20,12,14
chr1	61406810	.	A	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,21|2,5;DP=33;ECNT=1;GERMQ=48;MBQ=33,20;MFRL=218,202;MMQ=60,60;MPOS=27;NALOD=1.15;NLOD=3.91;POPAF=6;TLOD=17.98;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NFIA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.067:15:8,0:5,0:13,0:2,13,0,0	0/1:11,7:0.4:18:3,3:4,2:8,5:3,8,2,5
chr1	61766258	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,22|11,6;DP=73;ECNT=1;GERMQ=44;MBQ=20,20;MFRL=197,164;MMQ=60,60;MPOS=39;NALOD=1.37;NLOD=6.56;POPAF=2.68;RPA=9,8;RU=T;STR;STRQ=13;TLOD=16.22;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PATJ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0026;AF_raw=0.0025;AF_male=0.0024;AF_female=0.0027;AF_afr=0.0083;AF_ami=0;AF_amr=0.0005;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.681e-05;AF_oth=0.0042;AF_sas=0;ALL.sites.2015_08=0.00219649;AFR.sites.2015_08=0.0083;ALL.sites.2015_08=0.00219649;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs561760674;ExAC_ALL=0.0007;ExAC_AFR=0.0076;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.199e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.041:28:6,0:13,0:22,0:17,11,0,0	0/1:26,17:0.426:43:7,6:8,5:15,11:15,11,11,6
chr1	61775179	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,29|2,2;DP=77;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,136;MMQ=60,60;MPOS=27;NALOD=1.35;NLOD=6.32;POPAF=6;TLOD=6.1;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PATJ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.043:31:9,0:12,0:21,0:20,11,0,0	0/1:39,4:0.119:43:9,1:12,1:21,2:21,18,2,2
chr1	62210526	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=63,54|2,2;DP=125;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,139;MMQ=60,60;MPOS=20;NALOD=1.54;NLOD=10.23;POPAF=6;TLOD=5.09;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=L1TD1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=L1TD1:NM_019079:exon4:c.C1752A:p.T584T,L1TD1:NM_001164835:exon5:c.C1752A:p.T584T;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.028:50:16,0:17,0:34,0:28,22,0,0	0/1:67,4:0.071:71:26,2:12,0:38,2:35,32,2,2
chr1	62496585	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=1,14|0,3;DP=24;ECNT=1;GERMQ=42;MBQ=35,36;MFRL=237,260;MMQ=60,60;MPOS=62;NALOD=1.11;NLOD=3.3;POPAF=6;RPA=6,5;RU=A;STR;STRQ=93;TLOD=7.29;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DOCK7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.073:11:3,0:1,0:11,0:0,11,0,0	0/1:4,3:0.501:7:1,0:1,0:3,3:1,3,0,3
chr1	63411838	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,7|2,1;DP=39;ECNT=1;GERMQ=72;MBQ=37,20;MFRL=232,218;MMQ=60,60;MPOS=5;NALOD=1.24;NLOD=4.81;POPAF=6;TLOD=5.09;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ALG6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.054:18:11,0:4,0:16,0:15,3,0,0	0/1:16,3:0.187:19:4,1:8,1:12,2:12,4,2,1
chr1	63557053	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,3|7,3;DP=25;ECNT=1;GERMQ=28;MBQ=22,20;MFRL=199,186;MMQ=60,60;MPOS=18;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=21.66;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EFCAB7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.404e-05;AF_raw=1.397e-05;AF_male=2.899e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:9,0:0.1:9:3,0:4,0:8,0:8,1,0,0	0/1:6,10:0.616:16:3,2:1,5:4,7:4,2,7,3
chr1	63561784	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,47|23,18;DP=144;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,148;MMQ=60,60;MPOS=26;NALOD=1.49;NLOD=9.03;POPAF=6;TLOD=90.6;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EFCAB7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=EFCAB7:NM_032437:exon11:c.G1424A:p.R475Q;cytoBand=1p31.3;SIFT_score=0.1;SIFT_converted_rankscore=0.305;SIFT_pred=T;SIFT4G_score=0.09;SIFT4G_converted_rankscore=0.403;SIFT4G_pred=T;Polyphen2_HDIV_score=0.149;Polyphen2_HDIV_rankscore=0.280;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.008;Polyphen2_HVAR_rankscore=0.137;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.375;LRT_pred=N;MutationTaster_score=0.958;MutationTaster_converted_rankscore=0.262;MutationTaster_pred=N;MutationAssessor_score=1.23;MutationAssessor_rankscore=0.307;MutationAssessor_pred=L;FATHMM_score=1.02;FATHMM_converted_rankscore=0.407;FATHMM_pred=T;PROVEAN_score=-0.78;PROVEAN_converted_rankscore=0.216;PROVEAN_pred=N;VEST4_score=0.26;VEST4_rankscore=0.294;MetaSVM_score=-1.086;MetaSVM_rankscore=0.063;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.210;MetaLR_pred=T;MetaRNN_score=0.103;MetaRNN_rankscore=0.190;MetaRNN_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.331;M-CAP_pred=T;REVEL_score=0.053;REVEL_rankscore=0.154;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.359;MVP_rankscore=0.355;MPC_score=0.188;MPC_rankscore=0.212;PrimateAI_score=0.247;PrimateAI_rankscore=0.034;PrimateAI_pred=T;DEOGEN2_score=0.002;DEOGEN2_rankscore=0.015;DEOGEN2_pred=T;BayesDel_addAF_score=-0.378;BayesDel_addAF_rankscore=0.032;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.605;BayesDel_noAF_rankscore=0.124;BayesDel_noAF_pred=T;ClinPred_score=0.154;ClinPred_rankscore=0.174;ClinPred_pred=T;LIST-S2_score=0.851;LIST-S2_rankscore=0.534;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.906;CADD_raw_rankscore=0.288;CADD_phred=18.54;DANN_score=0.989;DANN_rankscore=0.485;fathmm-MKL_coding_score=0.731;fathmm-MKL_coding_rankscore=0.358;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.099;fathmm-XF_coding_rankscore=0.199;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.309;Eigen-raw_coding_rankscore=0.288;Eigen-PC-raw_coding=-0.263;Eigen-PC-raw_coding_rankscore=0.293;GenoCanyon_score=0.166;GenoCanyon_rankscore=0.177;integrated_fitCons_score=0.638;integrated_fitCons_rankscore=0.432;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.76;GERP++_RS=2.87;GERP++_RS_rankscore=0.325;phyloP100way_vertebrate=1.720;phyloP100way_vertebrate_rankscore=0.376;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=0.994;phastCons100way_vertebrate_rankscore=0.383;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=9.840;SiPhy_29way_logOdds_rankscore=0.402;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.708e-05;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs750230838;ExAC_ALL=8.268e-06;ExAC_AFR=0;ExAC_AMR=8.684e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.031:48:16,0:11,0:30,0:25,23,0,0	0/1:50,41:0.471:91:11,13:15,10:26,23:26,24,23,18
chr1	65092367	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,22|13,8;DP=76;ECNT=1;GERMQ=57;MBQ=20,20;MFRL=165,143;MMQ=60,60;MPOS=41;NALOD=1.23;NLOD=4.82;POPAF=6;TLOD=43.51;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=JAK1\x3bAK4;GeneDetail.refGene=dist\x3d24622\x3bdist\x3d55181;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.056:24:7,0:7,0:16,0:14,10,0,0	0/1:28,21:0.452:49:5,9:11,4:16,13:16,12,13,8
chr1	65405928	COSV54776779	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=83,71|25,23;DP=205;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,140;MMQ=60,60;MPOS=41;NALOD=1.68;NLOD=14.14;POPAF=4.61;TLOD=106.63;AA=p.P692%3D,p.P705%3D,p.P762%3D;CDS=c.2076G>A,c.2115G>A,c.2286G>A;CNT=2,2,2;GENE=DNAJC6_ENST00000263441,DNAJC6_ENST00000395325,DNAJC6;HGVSC=ENST00000263441.11:c.2076G>A,ENST00000395325.7:c.2115G>A,ENST00000371069.4:c.2286G>A;HGVSG=1:g.65405928G>A,1:g.65405928G>A,1:g.65405928G>A;HGVSP=ENSP00000263441.7:p.Pro692%3D,ENSP00000378735.3:p.Pro705%3D,ENSP00000360108.4:p.Pro762%3D;LEGACY_ID=COSM7147435,COSM7147435,COSM7147435;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DNAJC6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DNAJC6:NM_001256864:exon16:c.G2286A:p.P762P,DNAJC6:NM_014787:exon16:c.G2115A:p.P705P,DNAJC6:NM_001256865:exon17:c.G2076A:p.P692P;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.283e-05;AF_raw=6.278e-05;AF_male=7.204e-05;AF_female=5.418e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=9.558e-05;AF_nfe=3.098e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs367640667;ExAC_ALL=8.322e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.514e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:77,0:0.02:77:27,0:16,0:47,0:41,36,0,0	0/1:77,48:0.37:125:26,15:18,11:45,26:42,35,25,23
chr1	65572290	.	GTTTT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=4,7|3,6;DP=21;ECNT=2;GERMQ=23;MBQ=39,20;MFRL=255,163;MMQ=60,60;MPOS=16;NALOD=0.569;NLOD=2.25;POPAF=6;RPA=27,23;RU=T;STR;STRQ=93;TLOD=26.74;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LEPR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:10,0:0.1:10:2,0:2,0:8,0:0|1:65572290_GTTTT_G:65572290:4,6,0,0	0|1:1,9:0.796:10:0,1:1,2:1,7:0|1:65572290_GTTTT_G:65572290:0,1,3,6
chr1	65572304	COSV100756547	T	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=4,10|4,4;DP=23;ECNT=2;GERMQ=12;MBQ=20,20;MFRL=216,139;MMQ=60,60;MPOS=26;NALOD=0.967;NLOD=2.35;POPAF=4.31;TLOD=15.06;AA=p.?,p.?,p.?,p.?,p.?,p.?;CDS=c.371-22T>G,c.371-22T>G,c.371-22T>G,c.371-22T>G,c.371-22T>G,c.371-22T>G;CNT=1,1,1,1,1,1;GENE=LEPR_ENST00000371058,LEPR_ENST00000371060,LEPR_ENST00000371059,LEPR_ENST00000344610,LEPR,LEPR_ENST00000616738;HGVSC=ENST00000371058.1:c.371-22T>G,ENST00000371060.7:c.371-22T>G,ENST00000371059.7:c.371-22T>G,ENST00000344610.12:c.371-22T>G,ENST00000349533.10:c.371-22T>G,ENST00000616738.4:c.371-22T>G;HGVSG=1:g.65572304T>G,1:g.65572304T>G,1:g.65572304T>G,1:g.65572304T>G,1:g.65572304T>G,1:g.65572304T>G;LEGACY_ID=COSN30594379,COSN30594379,COSN30594379,COSN30594379,COSN30594379,COSN30594379;STRAND=+,+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LEPR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.157e-05;AF_raw=3.493e-05;AF_male=2.974e-05;AF_female=1.392e-05;AF_afr=0;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs758252708;ExAC_ALL=5.733e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:10,0:0.098:10:4,0:4,0:8,0:0|1:65572290_GTTTT_G:65572290:4,6,0,0	0|1:4,8:0.56:12:2,2:0,2:4,5:0|1:65572290_GTTTT_G:65572290:0,4,4,4
chr1	65620047	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,31|7,8;DP=63;ECNT=1;GERMQ=68;MBQ=20,20;MFRL=189,134;MMQ=60,60;MPOS=19;NALOD=1.32;NLOD=6.02;POPAF=6;TLOD=29.24;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LEPR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.986e-06;AF_raw=6.977e-06;AF_male=0;AF_female=1.355e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.045:27:13,0:7,0:20,0:9,18,0,0	0/1:21,15:0.391:36:5,4:7,4:13,8:8,13,7,8
chr1	66814183	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,45|11,14;DP=132;ECNT=1;GERMQ=78;MBQ=20,20;MFRL=167,166;MMQ=60,60;MPOS=56;NALOD=1.27;NLOD=10.18;POPAF=2.69;RPA=10,9;RU=A;STR;STRQ=46;TLOD=23.86;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DNAI4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.4e-05;AF_raw=0.0002;AF_male=4.576e-05;AF_female=4.237e-05;AF_afr=9.983e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=1.599e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs754119466;ExAC_ALL=0.0160;ExAC_AFR=0.0118;ExAC_AMR=0.0129;ExAC_EAS=0.0152;ExAC_FIN=0.0062;ExAC_NFE=0.0180;ExAC_OTH=0.0130;ExAC_SAS=0.0184;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.027:53:18,0:9,0:34,0:25,28,0,0	0/1:34,25:0.449:59:11,6:6,7:20,16:17,17,11,14
chr1	66959811	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,16|13,14;DP=61;ECNT=1;GERMQ=41;MBQ=20,20;MFRL=184,166;MMQ=60,60;MPOS=20;NALOD=0.933;NLOD=3.82;POPAF=2.97;RPA=11,10;RU=T;STR;STRQ=93;TLOD=26.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MIER1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.126e-05;AF_raw=0.0002;AF_male=2.93e-05;AF_female=1.372e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=3.13e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000599042;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000599042;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.002;avsnp150=rs560468800;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.061:19:3,0:4,0:14,0:5,14,0,0	0/1:5,27:0.82:32:3,4:0,9:3,14:3,2,13,14
chr1	67093419	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,49|17,14;DP=139;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,171;MMQ=60,60;MPOS=29;NALOD=1.59;NLOD=11.14;POPAF=6;TLOD=69.89;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=C1orf141;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=C1orf141:NM_001276351:exon8:c.T789C:p.I263I;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.025:57:18,0:18,0:37,0:30,27,0,0	0/1:46,31:0.413:77:11,4:14,14:26,18:24,22,17,14
chr1	68438247	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,77|27,19;DP=199;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,172;MMQ=60,60;MPOS=29;NALOD=1.33;NLOD=12.27;POPAF=6;RPA=8,7;RU=T;STR;STRQ=91;TLOD=44.54;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RPE65;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=RPE65:NM_000329:exon10:c.1067delA:p.N356Mfs*17;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs281865520;ExAC_ALL=0.0001;ExAC_AFR=0.0002;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=9.059e-05;ExAC_OTH=0.0011;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:68,0:0.023:68:16,0:18,0:41,0:31,37,0,0	0/1:81,46:0.4:127:23,18:18,9:42,28:41,40,27,19
chr1	68486921	COSV63958227	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,50|14,17;DP=133;ECNT=2;GERMQ=37;MBQ=20,20;MFRL=154,148;MMQ=60,60;MPOS=56;NALOD=-1.415;NLOD=3.28;POPAF=3.19;TLOD=47.02;AA=p.?,p.?;CDS=c.769+16G>A,c.769+16G>A;CNT=5,5;GENE=DEPDC1,DEPDC1_ENST00000370966;HGVSC=ENST00000456315.6:c.769+16G>A,ENST00000370966.9:c.769+16G>A;HGVSG=1:g.68486921C>T,1:g.68486921C>T;LEGACY_ID=COSN15664799,COSN15664799;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DEPDC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.559e-05;AF_raw=8.888e-05;AF_male=0;AF_female=3.009e-05;AF_afr=2.637e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.725e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs923436080;ExAC_ALL=9.398e-05;ExAC_AFR=0.0001;ExAC_AMR=0.0001;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.792e-05;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,1:0.077:38:13,0:8,0:23,1:21,16,0,1	0/1:64,30:0.338:94:14,10:17,5:34,17:30,34,14,16
chr1	70089714	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,22|9,9;DP=75;ECNT=1;GERMQ=69;MBQ=20,20;MFRL=166,157;MMQ=60,60;MPOS=56;NALOD=1.28;NLOD=5.4;POPAF=6;RPA=6,5;RU=T;STR;STRQ=93;TLOD=14.37;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LRRC7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:26,0:0.05:26:9,0:8,0:18,0:18,8,0,0	0/1:31,18:0.356:49:8,5:9,4:17,9:17,14,9,9
chr1	71002263	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=62,71|21,25;DP=192;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=184,164;MMQ=60,60;MPOS=33;NALOD=1.63;NLOD=12.17;POPAF=2.82;RPA=9,8;RU=A;STR;STRQ=93;TLOD=36.21;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PTGER3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0017;AF_raw=0.0018;AF_male=0.0016;AF_female=0.0018;AF_afr=0.0052;AF_ami=0;AF_amr=0.0012;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0.0001;AF_oth=0.0019;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs961304733;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:66,0:0.023:66:14,0:20,0:41,0:30,36,0,0	0/1:67,46:0.397:113:19,11:13,11:38,25:32,35,21,25
chr1	71069381	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,37|13,16;DP=107;ECNT=1;GERMQ=62;MBQ=20,20;MFRL=170,169;MMQ=60,60;MPOS=36;NALOD=0.449;NLOD=5.91;POPAF=6;RPA=10,9;RU=T;STR;STRQ=75;TLOD=25.79;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZRANB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.125e-05;AF_raw=9.813e-05;AF_male=4.397e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=7.469e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.132e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs779250080;ExAC_ALL=0.0177;ExAC_AFR=0.0155;ExAC_AMR=0.0124;ExAC_EAS=0.0153;ExAC_FIN=0.0085;ExAC_NFE=0.0197;ExAC_OTH=0.0195;ExAC_SAS=0.0196;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,2:0.064:39:6,0:13,1:26,1:14,23,1,1	0/1:26,27:0.533:53:5,11:7,3:15,17:12,14,12,15
chr1	71076756	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,22|12,11;DP=84;ECNT=1;GERMQ=50;MBQ=20,20;MFRL=185,146;MMQ=60,60;MPOS=18;NALOD=1.33;NLOD=6;POPAF=4.61;RPA=8,7;RU=A;STR;STRQ=51;TLOD=23.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZRANB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.988e-06;AF_raw=6.978e-06;AF_male=1.442e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs764301632;ExAC_ALL=8.66e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.045:27:7,0:11,0:20,0:18,9,0,0	0/1:25,23:0.517:48:6,8:7,6:13,14:12,13,12,11
chr1	71776358	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=6,18|1,1;DP=27;ECNT=1;GERMQ=51;MBQ=28,38;MFRL=203,257;MMQ=60,60;MPOS=22;NALOD=1.11;NLOD=3.61;POPAF=6;TLOD=6.58;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NEGR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.071:15:3,0:6,0:12,0:3,12,0,0	0/1:9,2:0.222:11:1,1:5,0:6,1:3,6,1,1
chr1	71935383	.	G	GT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,25|3,7;DP=63;ECNT=1;GERMQ=47;MBQ=20,20;MFRL=188,169;MMQ=60,60;MPOS=30;NALOD=1.22;NLOD=4.46;POPAF=6;RPA=7,8;RU=T;STR;STRQ=93;TLOD=11.04;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NEGR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=1.441e-05;AF_female=1.355e-05;AF_afr=4.761e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.057:20:3,0:7,0:15,0:7,13,0,0	0/1:17,10:0.374:27:0,1:6,4:12,7:5,12,3,7
chr1	74198272	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=105,96|12,10;DP=226;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=159,160;MMQ=60,60;MPOS=34;NALOD=1.79;NLOD=18.06;POPAF=6;TLOD=45.38;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=FPGT\x3bFPGT-TNNI3K;GeneDetail.refGene=NM_001199328:c.-7T>C\x3bNM_001199329:c.-7T>C\x3bNM_003838:c.-7T>C\x3bNM_001112808:c.-7T>C\x3bNM_001199327:c.-7T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:94,0:0.016:94:28,0:28,0:60,0:50,44,0,0	0/1:107,22:0.195:129:39,8:19,5:61,14:55,52,12,10
chr1	74250831	.	CTTTTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,11|3,4;DP=31;ECNT=1;GERMQ=14;MBQ=20,20;MFRL=157,171;MMQ=60,60;MPOS=46;NALOD=0.714;NLOD=2.39;POPAF=6;RPA=16,11;RU=T;STR;STRQ=93;TLOD=24.9;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K\x3bTNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.097:13:3,0:3,0:8,0:5,8,0,0	0/1:5,7:0.558:12:0,1:3,3:3,4:2,3,3,4
chr1	75749380	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,25|15,10;DP=115;ECNT=1;GERMQ=87;MBQ=20,20;MFRL=185,169;MMQ=60,60;MPOS=15;NALOD=1.46;NLOD=8.07;POPAF=6;RPA=8,7;RU=A;STR;STRQ=53;TLOD=26.72;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ACADM;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.401e-05;AF_raw=2.095e-05;AF_male=2.892e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.102e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs767205556;ExAC_ALL=0.0001;ExAC_AFR=0.0001;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.034:42:5,0:20,0:27,0:26,16,0,0	0/1:30,25:0.419:55:9,8:10,7:21,15:21,9,15,10
chr1	75796895	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,4|2,1;DP=15;ECNT=1;GERMQ=31;MBQ=24,20;MFRL=247,142;MMQ=60,60;MPOS=10;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=6.22;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=MSH4;GeneDetail.refGene=NM_002440:c.-91G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs947707699;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:9,0:0.1:9:3,0:4,0:8,0:6,3,0,0	0/1:3,3:0.5:6:1,1:1,1:2,2:2,1,2,1
chr1	77633340	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,54|9,8;DP=125;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,176;MMQ=60,60;MPOS=30;NALOD=1.46;NLOD=8.43;POPAF=6;TLOD=33.6;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ZZZ3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ZZZ3:NM_001376151:exon3:c.A15T:p.R5R,ZZZ3:NM_001376147:exon4:c.A15T:p.R5R,ZZZ3:NM_001376149:exon4:c.A15T:p.R5R,ZZZ3:NM_001376153:exon4:c.A15T:p.R5R,ZZZ3:NM_001376146:exon5:c.A15T:p.R5R,ZZZ3:NM_001376148:exon5:c.A15T:p.R5R,ZZZ3:NM_001376154:exon5:c.A15T:p.R5R,ZZZ3:NM_015534:exon5:c.A15T:p.R5R;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:45,0:0.033:45:10,0:16,0:28,0:20,25,0,0	0/1:58,17:0.238:75:18,6:12,3:31,9:29,29,9,8
chr1	77713283	.	T	TA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,46|7,9;DP=123;ECNT=1;GERMQ=81;MBQ=20,20;MFRL=172,156;MMQ=60,60;MPOS=50;NALOD=0.924;NLOD=8.55;POPAF=3.65;RPA=7,8;RU=A;STR;STRQ=93;TLOD=7.83;ANNOVAR_DATE=2020-06-08;Func.refGene=splicing;Gene.refGene=USP33;GeneDetail.refGene=NM_001377438:exon21:c.1772-2->T\x3bNM_001377432:exon21:c.2309-2->T\x3bNM_015017:exon21:c.2309-2->T\x3bNM_001377436:exon20:c.2192-2->T\x3bNM_001377433:exon19:c.2012-2->T\x3bNM_001377439:exon22:c.1772-2->T\x3bNM_001377437:exon18:c.1895-2->T\x3bNM_001377431:exon20:c.2192-2->T\x3bNM_001377430:exon21:c.2285-2->T\x3bNM_001377435:exon18:c.1919-2->T\x3bNM_001377434:exon20:c.2216-2->T\x3bNM_201624:exon20:c.2216-2->T\x3bNM_201626:exon21:c.2285-2->T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.792e-05;AF_raw=4.185e-05;AF_male=2.881e-05;AF_female=2.709e-05;AF_afr=9.518e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs776742007;ExAC_ALL=4.134e-05;ExAC_AFR=9.728e-05;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.503e-05;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.032:49:8,0:18,0:29,0:24,25,0,0	0/1:40,16:0.318:56:7,3:12,6:21,10:19,21,7,9
chr1	77722018	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,31|6,9;DP=87;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=193,176;MMQ=60,60;MPOS=35;NALOD=1.49;NLOD=8.94;POPAF=6;TLOD=37.47;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USP33;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.031:38:15,0:13,0:30,0:20,18,0,0	0/1:27,15:0.392:42:7,5:8,3:16,10:14,13,6,9
chr1	77873147	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,32|9,13;DP=94;ECNT=1;GERMQ=73;MBQ=20,20;MFRL=170,154;MMQ=60,60;MPOS=47;NALOD=1.41;NLOD=7.02;POPAF=6;RPA=8,7;RU=T;STR;STRQ=61;TLOD=20.83;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MIGA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs748655937;ExAC_ALL=1.665e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.03e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.038:35:7,0:10,0:24,0:13,22,0,0	0/1:18,22:0.561:40:2,7:8,5:10,13:8,10,9,13
chr1	77966963	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,34|26,21;DP=125;ECNT=1;GERMQ=68;MBQ=20,20;MFRL=183,168;MMQ=60,60;MPOS=35;NALOD=1.49;NLOD=8.63;POPAF=2.8;RPA=11,10;RU=A;STR;STRQ=93;TLOD=44.74;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FUBP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0008;AF_raw=0.0008;AF_male=0.0007;AF_female=0.0009;AF_afr=0.0014;AF_ami=0;AF_amr=0.0007;AF_asj=0.0003;AF_eas=0.0006;AF_fin=0.0001;AF_nfe=0.0006;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs71590706;ExAC_ALL=0.0033;ExAC_AFR=0.0033;ExAC_AMR=0.0031;ExAC_EAS=0.0038;ExAC_FIN=0.0010;ExAC_NFE=0.0037;ExAC_OTH=0.0024;ExAC_SAS=0.0023;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.032:39:8,0:10,0:29,0:16,23,0,0	0/1:25,47:0.666:72:5,14:9,13:14,29:14,11,26,21
chr1	78016135	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=93,97|24,24;DP=261;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,146;MMQ=60,60;MPOS=35;NALOD=1.79;NLOD=17.62;POPAF=6;RPA=6,5;RU=A;STR;STRQ=93;TLOD=41.28;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DNAJB4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=DNAJB4:NM_001317101:exon3:c.558delA:p.N188Ifs*9,DNAJB4:NM_001317102:exon3:c.558delA:p.N188Ifs*9,DNAJB4:NM_007034:exon3:c.903delA:p.N303Ifs*9,DNAJB4:NM_001317099:exon4:c.903delA:p.N303Ifs*9,DNAJB4:NM_001317100:exon4:c.783delA:p.N263Ifs*9;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:94,0:0.016:94:35,0:17,0:59,0:48,46,0,0	0/1:96,48:0.322:144:23,8:21,16:55,26:45,51,24,24
chr1	78492833	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=85,82|27,27;DP=237;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,161;MMQ=60,60;MPOS=33;NALOD=1.64;NLOD=12.28;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=45.8;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PTGFR;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PTGFR:NM_000959:exon2:c.91delT:p.S33Qfs*2,PTGFR:NM_001039585:exon2:c.91delT:p.S33Qfs*2;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:67,0:0.022:67:12,0:22,0:41,0:33,34,0,0	0/1:100,54:0.342:154:34,16:19,12:56,29:52,48,27,27
chr1	78655409	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=76,86|19,18;DP=201;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,145;MMQ=60,60;MPOS=40;NALOD=1.74;NLOD=15.94;POPAF=3.83;TLOD=81.39;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=IFI44;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=IFI44:NM_006417:exon5:c.G738A:p.P246P;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=5.765e-05;AF_female=0.0002;AF_afr=2.381e-05;AF_ami=0;AF_amr=0.0007;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=6.195e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs781243337;ExAC_ALL=0.0002;ExAC_AFR=9.649e-05;ExAC_AMR=0.0021;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.009e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:75,0:0.018:75:19,0:25,0:53,0:35,40,0,0	0/1:87,37:0.292:124:25,9:21,10:50,20:41,46,19,18
chr1	78939191	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,46|5,4;DP=102;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=172,163;MMQ=60,60;MPOS=50;NALOD=1.39;NLOD=6.92;POPAF=6;TLOD=16.27;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ADGRL4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ADGRL4:NM_022159:exon4:c.A393G:p.T131T;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.039:35:16,0:7,0:23,0:17,18,0,0	0/1:55,9:0.162:64:16,2:13,3:30,5:27,28,5,4
chr1	84497531	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,39|12,15;DP=111;ECNT=1;GERMQ=66;MBQ=20,20;MFRL=183,179;MMQ=60,60;MPOS=29;NALOD=1.24;NLOD=4.48;POPAF=6;RPA=5,4;RU=T;STR;STRQ=93;TLOD=25.67;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=RPF1;GeneDetail.refGene=NM_025065:c.*62delT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.055:24:6,0:8,0:15,0:11,13,0,0	0/1:49,27:0.353:76:9,7:15,7:28,15:23,26,12,15
chr1	84865981	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=63,55|25,27;DP=197;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=171,161;MMQ=60,60;MPOS=42;NALOD=1.13;NLOD=10.68;POPAF=6;RPA=9,8;RU=A;STR;STRQ=93;TLOD=41.62;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LPAR3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LPAR3:NM_012152:exon2:c.139delT:p.S47Lfs*9;cytoBand=1p31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.059e-06;AF_raw=1.401e-05;AF_male=0;AF_female=1.367e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.558e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs762083435;ExAC_ALL=3.309e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.017e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.025:53:17,0:15,0:36,0:29,24,0,0	0/1:65,52:0.426:117:18,11:17,15:38,28:34,31,25,27
chr1	84958696	COSV52295902	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,56|8,9;DP=122;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,151;MMQ=60,60;MPOS=25;NALOD=1.49;NLOD=8.73;POPAF=6;TLOD=33.41;AA=p.R82C,p.R54C;CDS=c.244C>T,c.160C>T;CNT=2,2;GENE=MCOLN2,MCOLN2_ENST00000284027;HGVSC=ENST00000370608.7:c.244C>T,ENST00000284027.5:c.160C>T;HGVSG=1:g.84958696G>A,1:g.84958696G>A;HGVSP=ENSP00000359640.3:p.Arg82Cys,ENSP00000284027.5:p.Arg54Cys;LEGACY_ID=COSM3492981,COSM3492981;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MCOLN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MCOLN2:NM_153259:exon3:c.C244T:p.R82C,MCOLN2:NM_001330647:exon4:c.C160T:p.R54C;cytoBand=1p22.3;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;SIFT4G_score=0.016;SIFT4G_converted_rankscore=0.631;SIFT4G_pred=D;Polyphen2_HDIV_score=0.982;Polyphen2_HDIV_rankscore=0.600;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.446;Polyphen2_HVAR_rankscore=0.460;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.513;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=1.85;MutationAssessor_rankscore=0.491;MutationAssessor_pred=L;FATHMM_score=-1.04;FATHMM_converted_rankscore=0.766;FATHMM_pred=T;PROVEAN_score=-0.13;PROVEAN_converted_rankscore=0.090;PROVEAN_pred=N;VEST4_score=0.382;VEST4_rankscore=0.423;MetaSVM_score=-0.619;MetaSVM_rankscore=0.640;MetaSVM_pred=T;MetaLR_score=0.199;MetaLR_rankscore=0.554;MetaLR_pred=T;MetaRNN_score=0.527;MetaRNN_rankscore=0.630;MetaRNN_pred=D;M-CAP_score=0.102;M-CAP_rankscore=0.775;M-CAP_pred=D;REVEL_score=0.364;REVEL_rankscore=0.687;MutPred_score=0.574;MutPred_rankscore=0.698;MVP_score=0.875;MVP_rankscore=0.874;MPC_score=0.103;MPC_rankscore=0.116;PrimateAI_score=0.463;PrimateAI_rankscore=0.338;PrimateAI_pred=T;DEOGEN2_score=0.002;DEOGEN2_rankscore=0.017;DEOGEN2_pred=T;BayesDel_addAF_score=-0.081;BayesDel_addAF_rankscore=0.395;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.171;BayesDel_noAF_rankscore=0.573;BayesDel_noAF_pred=T;ClinPred_score=0.582;ClinPred_rankscore=0.357;ClinPred_pred=D;LIST-S2_score=0.771;LIST-S2_rankscore=0.587;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.008;CADD_raw_rankscore=0.789;CADD_phred=27.0;DANN_score=0.997;DANN_rankscore=0.808;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.568;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.595;fathmm-XF_coding_rankscore=0.590;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.391;Eigen-raw_coding_rankscore=0.609;Eigen-PC-raw_coding=0.509;Eigen-PC-raw_coding_rankscore=0.686;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.440;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=6.03;GERP++_RS=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=4.597;phyloP100way_vertebrate_rankscore=0.608;phyloP30way_mammalian=0.195;phyloP30way_mammalian_rankscore=0.222;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=14.132;SiPhy_29way_logOdds_rankscore=0.648;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.031:44:8,0:15,0:29,0:17,27,0,0	0/1:53,17:0.243:70:15,7:11,2:30,9:24,29,8,9
chr1	84996880	.	CCTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=68,75|16,19;DP=180;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,145;MMQ=60,60;MPOS=25;NALOD=1.62;NLOD=12.34;POPAF=6;TLOD=115.35;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=MCOLN2;GeneDetail.refGene=NM_001330647:c.-31180_-31182delAAG\x3bNM_153259:c.-9_-11delAAG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:67,0:0.023:67:19,0:15,0:41,0:30,37,0,0	0/1:76,35:0.323:111:20,8:18,8:41,19:38,38,16,19
chr1	85158787	COSV58323113	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,37|20,18;DP=130;ECNT=1;GERMQ=63;MBQ=20,20;MFRL=160,153;MMQ=60,60;MPOS=38;NALOD=1.5;NLOD=9.03;POPAF=3.15;TLOD=84.01;AA=p.R1183H;CDS=c.3548G>A;CNT=1;GENE=SYDE2;HGVSC=ENST00000341460.5:c.3548G>A;HGVSG=1:g.85158787C>T;HGVSP=ENSP00000340594.5:p.Arg1183His;LEGACY_ID=COSM1235947;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SYDE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYDE2:NM_032184:exon7:c.G3548A:p.R1183H;cytoBand=1p22.3;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.004;SIFT4G_converted_rankscore=0.742;SIFT4G_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.707;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.765;Polyphen2_HVAR_rankscore=0.566;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.480;MutationTaster_pred=D;MutationAssessor_score=3.39;MutationAssessor_rankscore=0.916;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.682;FATHMM_pred=T;PROVEAN_score=-2.81;PROVEAN_converted_rankscore=0.594;PROVEAN_pred=D;VEST4_score=0.46;VEST4_rankscore=0.497;MetaSVM_score=-0.340;MetaSVM_rankscore=0.738;MetaSVM_pred=T;MetaLR_score=0.335;MetaLR_rankscore=0.702;MetaLR_pred=T;MetaRNN_score=0.021;MetaRNN_rankscore=0.005;MetaRNN_pred=T;M-CAP_score=0.025;M-CAP_rankscore=0.476;M-CAP_pred=T;REVEL_score=0.243;REVEL_rankscore=0.553;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.824;MVP_rankscore=0.823;MPC_score=0.269;MPC_rankscore=0.295;PrimateAI_score=0.604;PrimateAI_rankscore=0.535;PrimateAI_pred=T;DEOGEN2_score=0.164;DEOGEN2_rankscore=0.510;DEOGEN2_pred=T;BayesDel_addAF_score=-0.186;BayesDel_addAF_rankscore=0.228;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.059;BayesDel_noAF_rankscore=0.664;BayesDel_noAF_pred=T;ClinPred_score=0.128;ClinPred_rankscore=0.152;ClinPred_pred=T;LIST-S2_score=0.919;LIST-S2_rankscore=0.709;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.755;CADD_raw_rankscore=0.709;CADD_phred=25.6;DANN_score=0.999;DANN_rankscore=0.983;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.689;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.750;fathmm-XF_coding_rankscore=0.691;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.738;Eigen-raw_coding_rankscore=0.821;Eigen-PC-raw_coding=0.751;Eigen-PC-raw_coding_rankscore=0.862;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.638;integrated_fitCons_rankscore=0.432;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.97;GERP++_RS=5.97;GERP++_RS_rankscore=0.969;phyloP100way_vertebrate=4.612;phyloP100way_vertebrate_rankscore=0.609;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=15.188;SiPhy_29way_logOdds_rankscore=0.727;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0007;AF_raw=0.0007;AF_male=0.0006;AF_female=0.0008;AF_afr=0.0003;AF_ami=0.0033;AF_amr=0.0006;AF_asj=0;AF_eas=0;AF_fin=9.597e-05;AF_nfe=0.0011;AF_oth=0.0009;AF_sas=0.0010;ALL.sites.2015_08=0.000998403;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000998403;EUR.sites.2015_08=.;AMR.sites.2015_08=0.0014;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0041;avsnp150=rs200644067;ExAC_ALL=0.0012;ExAC_AFR=0;ExAC_AMR=0.0016;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0015;ExAC_OTH=0.0017;ExAC_SAS=0.0021;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.031:46:14,0:15,0:30,0:29,17,0,0	0/1:42,38:0.477:80:9,10:13,10:22,20:22,20,20,18
chr1	85662154	.	TTAAAA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,15|3,2;DP=51;ECNT=2;GERMQ=55;MBQ=20,31;MFRL=169,172;MMQ=60,60;MPOS=14;NALOD=0.872;NLOD=5.7;POPAF=6;TLOD=13.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZNHIT6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:27,0:0.047:27:11,0:7,0:19,0:0|1:85662154_TTAAAA_T:85662154:17,10,0,0	0|1:12,5:0.378:17:3,3:4,1:7,4:0|1:85662154_TTAAAA_T:85662154:7,5,3,2
chr1	85737577	.	TTGA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,21|3,3;DP=37;ECNT=1;GERMQ=45;MBQ=20,20;MFRL=185,188;MMQ=60,60;MPOS=27;NALOD=1.2;NLOD=4.51;POPAF=6;TLOD=10.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL24A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.059:20:3,0:5,0:15,0:5,15,0,0	0/1:10,6:0.382:16:2,1:3,3:7,4:4,6,3,3
chr1	85911441	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,42|16,18;DP=128;ECNT=1;GERMQ=54;MBQ=20,20;MFRL=171,145;MMQ=60,60;MPOS=53;NALOD=0.935;NLOD=7.27;POPAF=3.76;RPA=9,8;RU=A;STR;STRQ=89;TLOD=24.24;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL24A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.122e-05;AF_raw=2.804e-05;AF_male=4.386e-05;AF_female=0;AF_afr=4.821e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.562e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs755087181;ExAC_ALL=0.0006;ExAC_AFR=0.0010;ExAC_AMR=8.773e-05;ExAC_EAS=0.0005;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0004;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,1:0.04:41:9,1:13,0:27,1:18,22,0,1	0/1:37,33:0.45:70:11,5:8,12:21,17:17,20,16,17
chr1	86376420	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,39|10,13;DP=108;ECNT=1;GERMQ=46;MBQ=20,20;MFRL=179,152;MMQ=60,60;MPOS=45;NALOD=1.21;NLOD=8.58;POPAF=1.7;RPA=10,9;RU=A;STR;STRQ=58;TLOD=20.29;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ODF2L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0176;AF_raw=0.0177;AF_male=0.0181;AF_female=0.0172;AF_afr=0.0308;AF_ami=0.0168;AF_amr=0.0141;AF_asj=0.0121;AF_eas=0.0003;AF_fin=0.0205;AF_nfe=0.0102;AF_oth=0.0184;AF_sas=0.0220;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs538815359;ExAC_ALL=0.0378;ExAC_AFR=0.0454;ExAC_AMR=0.0282;ExAC_EAS=0.0130;ExAC_FIN=0.0317;ExAC_NFE=0.0368;ExAC_OTH=0.0253;ExAC_SAS=0.0634;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.031:42:10,0:9,0:29,0:15,27,0,0	0/1:22,23:0.52:45:8,5:3,6:12,13:10,12,10,13
chr1	86443885	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,67|28,25;DP=191;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,148;MMQ=60,60;MPOS=31;NALOD=1.64;NLOD=12.94;POPAF=6;TLOD=119.09;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CLCA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CLCA2:NM_006536:exon10:c.G1587A:p.T529T;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs548600933;ExAC_ALL=8.24e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.499e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:77,0:0.022:77:12,0:31,0:43,0:38,39,0,0	0/1:59,53:0.46:112:15,11:14,17:33,28:31,28,28,25
chr1	86473679	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,20|2,3;DP=58;ECNT=1;GERMQ=93;MBQ=33,37;MFRL=202,232;MMQ=60,60;MPOS=42;NALOD=1.38;NLOD=6.92;POPAF=6;TLOD=15.21;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CLCA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.04:28:9,0:14,0:23,0:17,11,0,0	0/1:23,5:0.26:28:3,3:13,2:16,5:14,9,2,3
chr1	86498557	.	A	AT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,22|8,5;DP=83;ECNT=1;GERMQ=82;MBQ=20,20;MFRL=178,164;MMQ=60,60;MPOS=24;NALOD=1.29;NLOD=5.37;POPAF=6;RPA=7,8;RU=T;STR;STRQ=93;TLOD=14.54;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CLCA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs770905489;ExAC_ALL=8.357e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.508e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.049:24:12,0:6,0:18,0:17,7,0,0	0/1:42,13:0.237:55:19,6:8,2:27,8:27,15,8,5
chr1	88983554	COSV53097955	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=107,96|4,0;DP=212;ECNT=1;GERMQ=93;MBQ=20,38;MFRL=166,170;MMQ=60,40;MPOS=4;NALOD=1.76;NLOD=16.86;POPAF=1.41;TLOD=9.06;AA=p.?,p.R91S,p.R91S,p.?;CDS=c.99+4698A>T,c.273A>T,c.273A>T,c.-4+9031A>T;CNT=12,12,12,12;GENE=KYAT3,RBMXL1_ENST00000321792,RBMXL1,KYAT3_ENST00000370491;HGVSC=ENST00000260508.8:c.99+4698A>T,ENST00000321792.5:c.273A>T,ENST00000399794.6:c.273A>T,ENST00000370491.7:c.-4+9031A>T;HGVSG=1:g.88983554T>A,1:g.88983554T>A,1:g.88983554T>A,1:g.88983554T>A;HGVSP=ENSP00000318415.5:p.Arg91Ser,ENSP00000446099.1:p.Arg91Ser;LEGACY_ID=COSM4593123,COSM4593123,COSM4593123,COSM4593123;STRAND=-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RBMXL1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBMXL1:NM_019610:exon2:c.A273T:p.R91S,RBMXL1:NM_001162536:exon3:c.A273T:p.R91S;cytoBand=1p22.2;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;SIFT4G_score=1.0;SIFT4G_converted_rankscore=0.012;SIFT4G_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=-2.44;MutationAssessor_rankscore=0.001;MutationAssessor_pred=N;FATHMM_score=-0.83;FATHMM_converted_rankscore=0.742;FATHMM_pred=T;PROVEAN_score=3.75;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST4_score=0.054;VEST4_rankscore=0.026;MetaSVM_score=-0.987;MetaSVM_rankscore=0.333;MetaSVM_pred=T;MetaLR_score=0.030;MetaLR_rankscore=0.131;MetaLR_pred=T;MetaRNN_score=0.015;MetaRNN_rankscore=0.003;MetaRNN_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.181;M-CAP_pred=T;REVEL_score=0.180;REVEL_rankscore=0.455;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.169;MVP_rankscore=0.165;MPC_score=0.403;MPC_rankscore=0.412;PrimateAI_score=0.573;PrimateAI_rankscore=0.491;PrimateAI_pred=T;DEOGEN2_score=0.004;DEOGEN2_rankscore=0.032;DEOGEN2_pred=T;BayesDel_addAF_score=-0.225;BayesDel_addAF_rankscore=0.173;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.561;BayesDel_noAF_rankscore=0.163;BayesDel_noAF_pred=T;ClinPred_score=0.030;ClinPred_rankscore=0.020;ClinPred_pred=T;LIST-S2_score=0.366;LIST-S2_rankscore=0.085;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=0.763;CADD_raw_rankscore=0.122;CADD_phred=9.035;DANN_score=0.776;DANN_rankscore=0.119;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_rankscore=0.140;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.028;fathmm-XF_coding_rankscore=0.024;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.420;Eigen-raw_coding_rankscore=0.025;Eigen-PC-raw_coding=-1.337;Eigen-PC-raw_coding_rankscore=0.040;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.419;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=1.59;GERP++_RS=-1.88;GERP++_RS_rankscore=0.073;phyloP100way_vertebrate=0.829;phyloP100way_vertebrate_rankscore=0.271;phyloP30way_mammalian=-0.656;phyloP30way_mammalian_rankscore=0.043;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.103;phastCons30way_mammalian_rankscore=0.195;SiPhy_29way_logOdds=1.521;SiPhy_29way_logOdds_rankscore=0.024;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0072;AF_raw=0.0582;AF_male=0.0076;AF_female=0.0068;AF_afr=0.0088;AF_ami=0.0036;AF_amr=0.0097;AF_asj=0.0035;AF_eas=0.0045;AF_fin=0.0062;AF_nfe=0.0061;AF_oth=0.0099;AF_sas=0.0112;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs200727134;ExAC_ALL=0.0004;ExAC_AFR=0.0012;ExAC_AMR=0.0004;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:75,0:0.017:75:24,0:25,0:56,0:44,31,0,0	0/1:128,4:0.062:132:34,4:35,0:74,4:63,65,4,0
chr1	89014087	COSV52517581	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=56,45|15,11;DP=142;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,178;MMQ=60,60;MPOS=34;NALOD=1.5;NLOD=8.72;POPAF=4.31;TLOD=54.86;AA=p.T207%3D;CDS=c.621G>A;CNT=1;GENE=GBP3;HGVSC=ENST00000370481.8:c.621G>A;HGVSG=1:g.89014087C>T;HGVSP=ENSP00000359512.4:p.Thr207%3D;LEGACY_ID=COSM2258758;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GBP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GBP3:NM_001319180:exon5:c.G219A:p.T73T,GBP3:NM_001319181:exon5:c.G621A:p.T207T,GBP3:NM_018284:exon5:c.G621A:p.T207T,GBP3:NM_001319179:exon6:c.G384A:p.T128T;cytoBand=1p22.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.708e-05;AF_afr=4.759e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs991823295;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,0:0.031:43:19,0:7,0:29,0:24,19,0,0	0/1:58,26:0.313:84:11,7:21,8:34,15:32,26,15,11
chr1	89114102	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=112,109|27,24;DP=277;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,169;MMQ=60,60;MPOS=39;NALOD=1.7;NLOD=14.7;POPAF=6;TLOD=112.32;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GBP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GBP2:NM_004120:exon7:c.C1063T:p.H355Y;cytoBand=1p22.2;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.473;LRT_pred=U;MutationTaster_score=0.632;MutationTaster_converted_rankscore=0.328;MutationTaster_pred=D;MutationAssessor_score=4.245;MutationAssessor_rankscore=0.980;MutationAssessor_pred=H;FATHMM_score=-0.95;FATHMM_converted_rankscore=0.754;FATHMM_pred=T;PROVEAN_score=-5.67;PROVEAN_converted_rankscore=0.871;PROVEAN_pred=D;VEST4_score=0.455;VEST4_rankscore=0.492;MetaSVM_score=0.437;MetaSVM_rankscore=0.896;MetaSVM_pred=D;MetaLR_score=0.623;MetaLR_rankscore=0.867;MetaLR_pred=D;MetaRNN_score=0.946;MetaRNN_rankscore=0.939;MetaRNN_pred=D;M-CAP_score=0.031;M-CAP_rankscore=0.534;M-CAP_pred=D;REVEL_score=0.603;REVEL_rankscore=0.845;MutPred_score=0.84;MutPred_rankscore=0.946;MVP_score=0.913;MVP_rankscore=0.912;MPC_score=0.537;MPC_rankscore=0.510;PrimateAI_score=0.463;PrimateAI_rankscore=0.338;PrimateAI_pred=T;DEOGEN2_score=0.276;DEOGEN2_rankscore=0.648;DEOGEN2_pred=T;BayesDel_addAF_score=0.166;BayesDel_addAF_rankscore=0.707;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.000;BayesDel_noAF_rankscore=0.703;BayesDel_noAF_pred=D;ClinPred_score=0.999;ClinPred_rankscore=0.960;ClinPred_pred=D;LIST-S2_score=0.961;LIST-S2_rankscore=0.854;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.268;CADD_raw_rankscore=0.582;CADD_phred=24.0;DANN_score=0.998;DANN_rankscore=0.874;fathmm-MKL_coding_score=0.888;fathmm-MKL_coding_rankscore=0.489;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.526;fathmm-XF_coding_rankscore=0.548;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.748;Eigen-raw_coding_rankscore=0.828;Eigen-PC-raw_coding=0.613;Eigen-PC-raw_coding_rankscore=0.759;GenoCanyon_score=0.978;GenoCanyon_rankscore=0.299;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.85;GERP++_RS=3.85;GERP++_RS_rankscore=0.436;phyloP100way_vertebrate=3.800;phyloP100way_vertebrate_rankscore=0.552;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.413;phastCons30way_mammalian=0.787;phastCons30way_mammalian_rankscore=0.331;SiPhy_29way_logOdds=13.664;SiPhy_29way_logOdds_rankscore=0.619;Interpro_domain=Guanylate-binding_protein/Atlastin,_C-terminal|Guanylate-binding_protein,_C-terminal;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:78,0:0.019:78:23,0:21,0:49,0:41,37,0,0	0/1:143,51:0.294:194:34,9:40,18:76,31:71,72,27,24
chr1	89267554	.	GT	CG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,35|1,1;DP=63;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=149,118;MMQ=60,60;MPOS=5;NALOD=1.15;NLOD=3.91;POPAF=6;TLOD=5.19;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GBP5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.067:18:7,0:5,0:13,0:6,12,0,0	0/1:43,2:0.077:45:7,1:15,0:23,1:20,23,1,1
chr1	90716837	COSV64981629	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=82,78|17,20;DP=209;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=177,164;MMQ=60,60;MPOS=44;NALOD=1.75;NLOD=16.51;POPAF=6;TLOD=80.13;AA=p.P120Q;CDS=c.359C>A;CNT=3;GENE=BARHL2;HGVSC=ENST00000370445.4:c.359C>A;HGVSG=1:g.90716837G>T;HGVSP=ENSP00000359474.3:p.Pro120Gln;LEGACY_ID=COSM5449175;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=BARHL2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BARHL2:NM_020063:exon1:c.C359A:p.P120Q;cytoBand=1p22.2;SIFT_score=0.182;SIFT_converted_rankscore=0.218;SIFT_pred=T;SIFT4G_score=0.535;SIFT4G_converted_rankscore=0.099;SIFT4G_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.044;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_rankscore=0.010;MutationAssessor_pred=N;FATHMM_score=2.14;FATHMM_converted_rankscore=0.195;FATHMM_pred=T;PROVEAN_score=0.74;PROVEAN_converted_rankscore=0.020;PROVEAN_pred=N;VEST4_score=0.328;VEST4_rankscore=0.369;MetaSVM_score=-0.959;MetaSVM_rankscore=0.394;MetaSVM_pred=T;MetaLR_score=0.009;MetaLR_rankscore=0.031;MetaLR_pred=T;MetaRNN_score=0.081;MetaRNN_rankscore=0.132;MetaRNN_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.221;M-CAP_pred=T;REVEL_score=0.072;REVEL_rankscore=0.214;MutPred_score=0.329;MutPred_rankscore=0.313;MVP_score=0.359;MVP_rankscore=0.355;MPC_score=0.482;MPC_rankscore=0.472;PrimateAI_score=0.676;PrimateAI_rankscore=0.637;PrimateAI_pred=T;DEOGEN2_score=0.078;DEOGEN2_rankscore=0.359;DEOGEN2_pred=T;BayesDel_addAF_score=-0.393;BayesDel_addAF_rankscore=0.026;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.679;BayesDel_noAF_rankscore=0.070;BayesDel_noAF_pred=T;ClinPred_score=0.061;ClinPred_rankscore=0.073;ClinPred_pred=T;LIST-S2_score=0.292;LIST-S2_rankscore=0.054;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.072;CADD_raw_rankscore=0.160;CADD_phred=12.48;DANN_score=0.470;DANN_rankscore=0.038;fathmm-MKL_coding_score=0.324;fathmm-MKL_coding_rankscore=0.246;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.023;fathmm-XF_coding_rankscore=0.011;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.925;Eigen-raw_coding_rankscore=0.003;Eigen-PC-raw_coding=-1.937;Eigen-PC-raw_coding_rankscore=0.004;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.598;integrated_fitCons_rankscore=0.345;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.44;GERP++_RS=-8.88;GERP++_RS_rankscore=0.007;phyloP100way_vertebrate=0.924;phyloP100way_vertebrate_rankscore=0.284;phyloP30way_mammalian=0.014;phyloP30way_mammalian_rankscore=0.141;phastCons100way_vertebrate=0.973;phastCons100way_vertebrate_rankscore=0.345;phastCons30way_mammalian=0.064;phastCons30way_mammalian_rankscore=0.178;SiPhy_29way_logOdds=20.078;SiPhy_29way_logOdds_rankscore=0.978;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:85,0:0.017:85:25,0:19,0:55,0:44,41,0,0	0/1:75,37:0.329:112:19,7:19,10:44,21:38,37,17,20
chr1	91315950	COSV54020472	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,61|7,11;DP=137;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=184,175;MMQ=60,60;MPOS=43;NALOD=1.56;NLOD=10.53;POPAF=3.38;TLOD=41.87;AA=p.T1002M;CDS=c.3005C>T;CNT=4;GENE=HFM1;HGVSC=ENST00000370425.7:c.3005C>T;HGVSG=1:g.91315950G>A;HGVSP=ENSP00000359454.3:p.Thr1002Met;LEGACY_ID=COSM1561036;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HFM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HFM1:NM_001017975:exon28:c.C3005T:p.T1002M;cytoBand=1p22.2;SIFT_score=0.331;SIFT_converted_rankscore=0.131;SIFT_pred=T;SIFT4G_score=0.115;SIFT4G_converted_rankscore=0.366;SIFT4G_pred=T;Polyphen2_HDIV_score=0.08;Polyphen2_HDIV_rankscore=0.245;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_rankscore=0.197;Polyphen2_HVAR_pred=B;LRT_score=0.030;LRT_converted_rankscore=0.254;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.95;MutationAssessor_rankscore=0.238;MutationAssessor_pred=L;FATHMM_score=0.13;FATHMM_converted_rankscore=0.610;FATHMM_pred=T;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.182;PROVEAN_pred=N;VEST4_score=0.08;VEST4_rankscore=0.055;MetaSVM_score=-1.073;MetaSVM_rankscore=0.088;MetaSVM_pred=T;MetaLR_score=0.022;MetaLR_rankscore=0.094;MetaLR_pred=T;MetaRNN_score=0.014;MetaRNN_rankscore=0.003;MetaRNN_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.284;M-CAP_pred=T;REVEL_score=0.108;REVEL_rankscore=0.311;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.072;MVP_rankscore=0.067;MPC_score=0.053;MPC_rankscore=0.058;PrimateAI_score=0.218;PrimateAI_rankscore=0.012;PrimateAI_pred=T;DEOGEN2_score=0.011;DEOGEN2_rankscore=0.102;DEOGEN2_pred=T;BayesDel_addAF_score=-0.510;BayesDel_addAF_rankscore=0.005;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.519;BayesDel_noAF_rankscore=0.204;BayesDel_noAF_pred=T;ClinPred_score=0.021;ClinPred_rankscore=0.008;ClinPred_pred=T;LIST-S2_score=0.750;LIST-S2_rankscore=0.372;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=-0.153;CADD_raw_rankscore=0.031;CADD_phred=0.644;DANN_score=0.479;DANN_rankscore=0.039;fathmm-MKL_coding_score=0.040;fathmm-MKL_coding_rankscore=0.094;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.153;fathmm-XF_coding_rankscore=0.277;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.552;Eigen-raw_coding_rankscore=0.015;Eigen-PC-raw_coding=-1.660;Eigen-PC-raw_coding_rankscore=0.013;GenoCanyon_score=0.283;GenoCanyon_rankscore=0.190;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.25;GERP++_RS=-10.5;GERP++_RS_rankscore=0.002;phyloP100way_vertebrate=0.859;phyloP100way_vertebrate_rankscore=0.275;phyloP30way_mammalian=-4.088;phyloP30way_mammalian_rankscore=0.001;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=4.128;SiPhy_29way_logOdds_rankscore=0.096;Interpro_domain=Sec63_domain|Sec63_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0003;AF_female=0.0005;AF_afr=0.0013;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.649e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs148381777;ExAC_ALL=0.0003;ExAC_AFR=0.0017;ExAC_AMR=0.0005;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=9.633e-05;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:52,0:0.027:52:19,0:12,0:35,0:23,29,0,0	0/1:60,18:0.271:78:18,4:9,6:34,12:28,32,7,11
chr1	91353296	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,55|12,12;DP=123;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,138;MMQ=60,60;MPOS=40;NALOD=1.43;NLOD=7.83;POPAF=6;TLOD=47.66;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HFM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HFM1:NM_001017975:exon14:c.A1689G:p.L563L;cytoBand=1p22.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.036:42:13,0:13,0:26,0:17,25,0,0	0/1:57,24:0.295:81:14,4:14,8:30,12:27,30,12,12
chr1	91520303	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,43|2,2;DP=78;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,159;MMQ=60,60;MPOS=37;NALOD=1.32;NLOD=6.02;POPAF=6;TLOD=5.69;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CDC7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.045:28:9,0:10,0:20,0:10,18,0,0	0/1:45,4:0.103:49:10,0:13,2:25,2:20,25,2,2
chr1	91712183	.	C	CT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,14|5,2;DP=56;ECNT=1;GERMQ=76;MBQ=20,20;MFRL=185,188;MMQ=60,60;MPOS=19;NALOD=1.36;NLOD=6.61;POPAF=6;RPA=4,5;RU=T;STR;STRQ=93;TLOD=8.64;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TGFBR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.042:28:13,0:9,0:22,0:22,6,0,0	0/1:19,7:0.331:26:7,2:4,2:11,5:11,8,5,2
chr1	92002159	.	A	AT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,41|9,13;DP=114;ECNT=1;GERMQ=45;MBQ=20,20;MFRL=167,146;MMQ=60,60;MPOS=37;NALOD=1.07;NLOD=5.96;POPAF=3.18;RPA=10,11;RU=T;STR;STRQ=5;TLOD=14.43;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=BRDT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0002;AF_male=0.0001;AF_female=9.562e-05;AF_afr=0.0002;AF_ami=0;AF_amr=7.41e-05;AF_asj=0;AF_eas=0;AF_fin=9.831e-05;AF_nfe=7.791e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs777070407;ExAC_ALL=0.0035;ExAC_AFR=0.0027;ExAC_AMR=0.0024;ExAC_EAS=0.0020;ExAC_FIN=0.0003;ExAC_NFE=0.0027;ExAC_OTH=0.0025;ExAC_SAS=0.0114;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.043:27:5,0:10,0:20,0:9,18,0,0	0/1:44,22:0.345:66:7,6:14,4:25,13:21,23,9,13
chr1	92269774	COSV104679049	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,43|2,2;DP=82;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,140;MMQ=60,60;MPOS=27;NALOD=1.3;NLOD=5.72;POPAF=6;TLOD=5.62;AA=p.P309L;CDS=c.926C>T;CNT=1;GENE=GLMN;HGVSC=ENST00000370360.7:c.926C>T;HGVSG=1:g.92269774G>A;HGVSP=ENSP00000359385.3:p.Pro309Leu;LEGACY_ID=COSM9420891;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GLMN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GLMN:NM_001319683:exon9:c.C926T:p.P309L,GLMN:NM_053274:exon9:c.C926T:p.P309L;cytoBand=1p22.1;SIFT_score=0.009;SIFT_converted_rankscore=0.575;SIFT_pred=D;SIFT4G_score=0.004;SIFT4G_converted_rankscore=0.742;SIFT4G_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.665;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.864;Polyphen2_HVAR_rankscore=0.615;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.475;MutationAssessor_rankscore=0.719;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-6.33;PROVEAN_converted_rankscore=0.909;PROVEAN_pred=D;VEST4_score=0.666;VEST4_rankscore=0.675;MetaSVM_score=-0.714;MetaSVM_rankscore=0.598;MetaSVM_pred=T;MetaLR_score=0.221;MetaLR_rankscore=0.585;MetaLR_pred=T;MetaRNN_score=0.924;MetaRNN_rankscore=0.917;MetaRNN_pred=D;M-CAP_score=0.033;M-CAP_rankscore=0.550;M-CAP_pred=D;REVEL_score=0.414;REVEL_rankscore=0.728;MutPred_score=0.813;MutPred_rankscore=0.929;MVP_score=0.844;MVP_rankscore=0.843;MPC_score=0.619;MPC_rankscore=0.562;PrimateAI_score=0.624;PrimateAI_rankscore=0.563;PrimateAI_pred=T;DEOGEN2_score=0.125;DEOGEN2_rankscore=0.451;DEOGEN2_pred=T;BayesDel_addAF_score=0.132;BayesDel_addAF_rankscore=0.675;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.049;BayesDel_noAF_rankscore=0.671;BayesDel_noAF_pred=D;ClinPred_score=0.986;ClinPred_rankscore=0.769;ClinPred_pred=D;LIST-S2_score=0.934;LIST-S2_rankscore=0.755;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.022;CADD_raw_rankscore=0.794;CADD_phred=27.1;DANN_score=0.999;DANN_rankscore=0.965;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.716;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.577;fathmm-XF_coding_rankscore=0.578;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.778;Eigen-raw_coding_rankscore=0.847;Eigen-PC-raw_coding=0.783;Eigen-PC-raw_coding_rankscore=0.886;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.490;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.89;GERP++_RS=5.89;GERP++_RS_rankscore=0.948;phyloP100way_vertebrate=6.565;phyloP100way_vertebrate_rankscore=0.739;phyloP30way_mammalian=1.158;phyloP30way_mammalian_rankscore=0.712;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.977;phastCons30way_mammalian_rankscore=0.468;SiPhy_29way_logOdds=17.392;SiPhy_29way_logOdds_rankscore=0.873;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.048:28:10,0:8,0:19,0:11,17,0,0	0/1:48,4:0.091:52:13,0:14,2:29,2:22,26,2,2
chr1	93201958	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,48|18,17;DP=144;ECNT=1;GERMQ=80;MBQ=20,20;MFRL=151,156;MMQ=60,60;MPOS=34;NALOD=0.72;NLOD=6.44;POPAF=6;RPA=9,8;RU=A;STR;STRQ=62;TLOD=24.57;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CCDC18;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CCDC18:NM_001306076:exon7:c.766delA:p.V259Wfs*15,CCDC18:NM_001378204:exon7:c.766delA:p.V259Wfs*15,CCDC18:NM_206886:exon7:c.766delA:p.V259Wfs*15;cytoBand=1p22.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.113e-05;AF_raw=4.897e-05;AF_male=1.456e-05;AF_female=2.727e-05;AF_afr=7.193e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs779262598;ExAC_ALL=0.0005;ExAC_AFR=0.0001;ExAC_AMR=0.0004;ExAC_EAS=0.0004;ExAC_FIN=0.0002;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0006;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:43,2:0.061:45:9,1:14,0:28,1:22,21,1,1	0/1:52,33:0.393:85:10,8:16,10:28,18:25,27,17,16
chr1	94048920	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,67|25,26;DP=182;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,133;MMQ=60,60;MPOS=31;NALOD=1.57;NLOD=10.79;POPAF=6;TLOD=111.73;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ABCA4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCA4:NM_000350:exon18:c.C2691T:p.T897T;cytoBand=1p22.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:55,0:0.026:55:15,0:13,0:36,0:27,28,0,0	0/1:76,51:0.389:127:21,14:16,11:43,27:37,39,25,26
chr1	94177587	.	ATT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,27|4,4;DP=75;ECNT=1;GERMQ=86;MBQ=20,20;MFRL=160,152;MMQ=60,60;MPOS=57;NALOD=0.902;NLOD=5.76;POPAF=6;RPA=10,8;RU=T;STR;STRQ=93;TLOD=9.28;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ARHGAP29;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=7.035e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.046:30:10,0:9,0:19,0:19,11,0,0	0/1:32,8:0.248:40:9,3:7,2:17,5:16,16,4,4
chr1	94506521	COSV64642451	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,37|14,14;DP=122;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=174,162;MMQ=60,60;MPOS=51;NALOD=1.15;NLOD=7.55;POPAF=4.31;TLOD=16.93;AA=p.?;CDS=c.1741-17T>A;CNT=3;GENE=ABCD3;HGVSC=ENST00000370214.8:c.1741-17T>A;HGVSG=1:g.94506521T>A;LEGACY_ID=COSN13568539;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ABCD3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p22.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=0.0001;AF_afr=0.0003;AF_ami=0;AF_amr=7.329e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.648e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768834923;ExAC_ALL=6.721e-05;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=6.083e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.036:40:7,0:17,0:26,0:24,16,0,0	0/1:47,28:0.337:75:13,5:13,9:29,14:26,21,14,14
chr1	94533095	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=68,47|11,10;DP=137;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=182,174;MMQ=60,60;MPOS=40;NALOD=1.37;NLOD=6.31;POPAF=6;TLOD=31.09;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=F3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=F3:NM_001178096:exon4:c.585delA:p.G196Efs*29,F3:NM_001993:exon4:c.585delA:p.G196Efs*13;cytoBand=1p22.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.041:32:6,0:12,0:21,0:20,12,0,0	0/1:83,21:0.193:104:27,4:19,7:49,11:48,35,11,10
chr1	94892402	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=92,90|29,30;DP=255;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,148;MMQ=60,60;MPOS=32;NALOD=1.7;NLOD=14.39;POPAF=6;RPA=6,5;RU=T;STR;STRQ=93;TLOD=57.41;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLC44A3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SLC44A3:NM_001258342:exon13:c.1635delT:p.L547Yfs*37,SLC44A3:NM_001258343:exon13:c.1539delT:p.L515Yfs*37,SLC44A3:NM_001301079:exon13:c.1503delT:p.L503Yfs*37,SLC44A3:NM_001350223:exon13:c.1452delT:p.L486Yfs*37,SLC44A3:NM_152369:exon13:c.1599delT:p.L535Yfs*37,SLC44A3:NM_001114106:exon14:c.1743delT:p.L583Yfs*37,SLC44A3:NM_001258340:exon14:c.1740delT:p.L582Yfs*37,SLC44A3:NM_001258341:exon14:c.1644delT:p.L550Yfs*37;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:77,0:0.02:77:19,0:19,0:48,0:39,38,0,0	0/1:105,59:0.364:164:22,14:31,17:56,32:53,52,29,30
chr1	94903018	.	TAAA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,7|6,4;DP=36;ECNT=1;GERMQ=25;MBQ=20,20;MFRL=211,168;MMQ=60,60;MPOS=22;NALOD=0.637;NLOD=2.92;POPAF=6;RPA=14,11;RU=A;STR;STRQ=93;TLOD=7.61;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CNN3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.59e-06;AF_raw=7.254e-06;AF_male=1.581e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.084:13:4,0:6,0:10,0:10,3,0,0	0/1:11,10:0.474:21:2,3:4,3:7,6:7,4,6,4
chr1	94930854	.	G	GT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=75,80|22,26;DP=220;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=137,140;MMQ=60,60;MPOS=44;NALOD=1.34;NLOD=11.6;POPAF=6;RPA=7,8;RU=T;STR;STRQ=93;TLOD=37.42;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=CNN3-DT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.981e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.023:56:12,0:19,0:39,0:28,28,0,0	0/1:99,48:0.336:147:23,14:25,10:54,27:47,52,22,26
chr1	96949508	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,20|5,6;DP=49;ECNT=1;GERMQ=46;MBQ=20,20;MFRL=155,146;MMQ=60,60;MPOS=53;NALOD=1.11;NLOD=3.61;POPAF=6;TLOD=21.88;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=PTBP2\x3bDPYD;GeneDetail.refGene=dist\x3d125769\x3bdist\x3d128236;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.071:20:4,0:7,0:12,0:9,11,0,0	0/1:18,11:0.412:29:6,3:3,1:9,6:9,9,5,6
chr1	97234773	.	ATT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,5|3,2;DP=26;ECNT=1;GERMQ=24;MBQ=20,20;MFRL=195,215;MMQ=60,60;MPOS=32;NALOD=0.769;NLOD=2.42;POPAF=6;RPA=10,8;RU=T;STR;STRQ=93;TLOD=5.7;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=DPYD-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.091:11:2,0:6,0:8,0:8,3,0,0	0/1:3,5:0.588:8:2,2:0,1:2,3:1,2,3,2
chr1	97546289	COSV64590433	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,45|2,2;DP=86;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=173,85;MMQ=60,33;MPOS=34;NALOD=1.6;NLOD=11.44;POPAF=6;TLOD=6.58;AA=p.?;CDS=c.1524+3271C>T;CNT=2;GENE=DPYD;HGVSC=ENST00000370192.7:c.1524+3271C>T;HGVSG=1:g.97546289G>A;LEGACY_ID=COSN28570292;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DPYD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=6.976e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1038698504;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:55,0:0.025:55:9,0:17,0:38,0:1|0:97546274_TA_T:97546274:24,31,0,0	1|0:26,4:0.167:30:4,2:9,0:14,2:1|0:97546274_TA_T:97546274:12,14,2,2
chr1	99306125	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=93,100|3,3;DP=209;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=174,123;MMQ=60,60;MPOS=12;NALOD=1.73;NLOD=15.03;POPAF=6;RPA=3,2;RU=G;STR;STRQ=93;TLOD=6.05;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PLPPR4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PLPPR4:NM_001166252:exon6:c.1234delG:p.Q413Sfs*7,PLPPR4:NM_014839:exon7:c.1264delG:p.Q423Sfs*7;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.019:73:25,0:13,0:50,0:37,36,0,0	0/1:120,6:0.044:126:30,1:29,2:68,3:56,64,3,3
chr1	99307082	COSV64567577	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,33|1,2;DP=46;ECNT=1;GERMQ=87;MBQ=22,20;MFRL=198,136;MMQ=60,60;MPOS=3;NALOD=1.22;NLOD=4.51;POPAF=6;TLOD=5.52;AA=p.?,p.?,p.?;CDS=c.*72C>T,c.*72C>T,c.*72C>T;CNT=1,1,1;GENE=PLPPR4_ENST00000370184,PLPPR4_ENST00000457765,PLPPR4;HGVSC=ENST00000370184.1:c.*72C>T,ENST00000457765.5:c.*72C>T,ENST00000370185.7:c.*72C>T;HGVSG=1:g.99307082C>T,1:g.99307082C>T,1:g.99307082C>T;LEGACY_ID=COSN26982803,COSN26982803,COSN26982803;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=PLPPR4;GeneDetail.refGene=NM_001166252:c.*72C>T\x3bNM_014839:c.*72C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:17,0:0.058:17:7,0:8,0:15,0:2,15,0,0	0/1:25,3:0.136:28:7,0:11,2:18,2:7,18,1,2
chr1	99715556	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,26|11,8;DP=74;ECNT=1;GERMQ=54;MBQ=20,20;MFRL=168,168;MMQ=60,60;MPOS=21;NALOD=1.32;NLOD=5.99;POPAF=4.61;RPA=8,7;RU=A;STR;STRQ=26;TLOD=19.58;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FRRS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.399e-05;AF_raw=1.395e-05;AF_male=2.886e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0006;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746882771;ExAC_ALL=2.507e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=1.513e-05;ExAC_OTH=0;ExAC_SAS=6.136e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.046:30:8,0:9,0:20,0:17,13,0,0	0/1:25,19:0.462:44:4,2:7,9:13,11:12,13,11,8
chr1	99874822	.	G	GT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,41|6,9;DP=97;ECNT=1;GERMQ=69;MBQ=20,20;MFRL=159,153;MMQ=60,60;MPOS=32;NALOD=0.588;NLOD=5.5;POPAF=6;RPA=7,8;RU=T;STR;STRQ=93;TLOD=7.71;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=AGL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs758614788;ExAC_ALL=1.654e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=3.008e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,2:0.067:40:8,1:12,0:25,1:14,24,1,1	0/1:31,13:0.321:44:8,6:6,2:17,8:14,17,5,8
chr1	100136950	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,46|12,11;DP=131;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=179,151;MMQ=60,60;MPOS=29;NALOD=1.57;NLOD=10.31;POPAF=6;RPA=9,8;RU=T;STR;STRQ=23;TLOD=24.8;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TRMT13;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.109e-05;AF_raw=2.796e-05;AF_male=2.903e-05;AF_female=1.363e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0.0003;AF_eas=0;AF_fin=0;AF_nfe=1.555e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs769602143;ExAC_ALL=0.0014;ExAC_AFR=0.0011;ExAC_AMR=0.0003;ExAC_EAS=0.0014;ExAC_FIN=0;ExAC_NFE=0.0020;ExAC_OTH=0.0012;ExAC_SAS=0.0005;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.026:50:16,0:14,0:35,0:26,24,0,0	0/1:41,23:0.399:64:12,7:8,6:23,15:19,22,12,11
chr1	100206304	.	A	AT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,37|10,10;DP=112;ECNT=1;GERMQ=69;MBQ=20,20;MFRL=165,143;MMQ=60,60;MPOS=51;NALOD=1.13;NLOD=7.21;POPAF=3.46;RPA=6,7;RU=T;STR;STRQ=93;TLOD=9.99;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DBT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.862e-05;AF_raw=5.624e-05;AF_male=4.441e-05;AF_female=1.385e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.278e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs754235532;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0.0005;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.037:34:11,0:9,0:24,0:21,13,0,0	0/1:48,20:0.293:68:10,4:14,6:26,11:24,24,10,10
chr1	100729052	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,15|11,6;DP=55;ECNT=1;GERMQ=43;MBQ=20,20;MFRL=197,212;MMQ=60,60;MPOS=19;NALOD=1.15;NLOD=3.9;POPAF=6;RPA=6,5;RU=A;STR;STRQ=93;TLOD=24.42;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=VCAM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.067:21:8,0:4,0:13,0:12,9,0,0	0/1:15,17:0.545:32:5,5:4,6:9,11:9,6,11,6
chr1	100974787	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,46|16,15;DP=130;ECNT=1;GERMQ=68;MBQ=20,20;MFRL=170,167;MMQ=60,60;MPOS=49;NALOD=0.493;NLOD=6.5;POPAF=3.33;RPA=10,9;RU=T;STR;STRQ=29;TLOD=26.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SLC30A7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0003;AF_male=0.0002;AF_female=0.0002;AF_afr=0.0002;AF_ami=0;AF_amr=7.444e-05;AF_asj=0.0003;AF_eas=0;AF_fin=0;AF_nfe=0.0003;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=0.00119808;AFR.sites.2015_08=0.003;ALL.sites.2015_08=0.00119808;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.002;avsnp150=rs533106530;ExAC_ALL=0.0104;ExAC_AFR=0.0058;ExAC_AMR=0.0055;ExAC_EAS=0.0087;ExAC_FIN=0.0012;ExAC_NFE=0.0144;ExAC_OTH=0.0123;ExAC_SAS=0.0054;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,2:0.06:41:11,0:13,1:28,1:21,18,1,1	0/1:59,29:0.339:88:18,8:13,7:32,16:31,28,15,14
chr1	101240197	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=6,18|1,6;DP=37;ECNT=1;GERMQ=41;MBQ=20,33;MFRL=198,207;MMQ=60,60;MPOS=13;NALOD=1.09;NLOD=3;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=13.33;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=S1PR1;GeneDetail.refGene=NM_001320730:c.*65delA\x3bNM_001400:c.*65delA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.985e-06;AF_raw=6.975e-06;AF_male=1.441e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.077:12:2,0:2,0:10,0:2,10,0,0	0/1:12,7:0.439:19:3,2:2,0:8,6:4,8,1,6
chr1	101786256	.	CTTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,4|4,3;DP=21;ECNT=2;GERMQ=34;MBQ=37,20;MFRL=195,216;MMQ=60,60;MPOS=39;NALOD=0.649;NLOD=2.95;POPAF=6;RPA=13,10;RU=T;STR;STRQ=93;TLOD=15.03;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=LINC01307\x3bOLFM3;GeneDetail.refGene=dist\x3d408944\x3bdist\x3d16301;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=7.543e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.081:13:5,0:4,0:10,0:9,4,0,0	0/1:0,7:0.857:7:0,2:0,2:0,5:0,0,4,3
chr1	102913501	.	A	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,0|3,0;DP=14;ECNT=1;GERMQ=31;MBQ=37,36;MFRL=233,232;MMQ=60,60;MPOS=25;NALOD=0.699;NLOD=2.41;POPAF=6;TLOD=4.89;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL11A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1056849654;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:8,0:0.1:8:5,0:3,0:8,0:8,0,0,0	0/1:3,3:0.5:6:0,2:3,1:3,3:3,0,3,0
chr1	102934437	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=59,45|1,1;DP=107;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=161,186;MMQ=60,60;MPOS=55;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=5.95;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL11A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:52,0:0.03:52:12,0:16,0:31,0:0|1:102934433_GACA_G:102934433:29,23,0,0	0|1:52,2:0.057:54:13,0:17,1:32,1:0|1:102934433_GACA_G:102934433:30,22,1,1
chr1	102998372	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,28|10,11;DP=87;ECNT=1;GERMQ=28;MBQ=20,20;MFRL=154,125;MMQ=60,60;MPOS=49;NALOD=1.27;NLOD=4.74;POPAF=2.82;RPA=10,9;RU=A;STR;STRQ=26;TLOD=14.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COL11A1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0003;AF_male=0.0002;AF_female=0.0002;AF_afr=0.0004;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0.0001;AF_nfe=0.0001;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs772159478;ExAC_ALL=0.0113;ExAC_AFR=0.0091;ExAC_AMR=0.0085;ExAC_EAS=0.0089;ExAC_FIN=0.0014;ExAC_NFE=0.0157;ExAC_OTH=0.0054;ExAC_SAS=0.0046;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.052:23:11,0:3,0:16,0:12,11,0,0	0/1:32,21:0.399:53:7,8:8,2:17,11:15,17,10,11
chr1	108700079	COSV64223524	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,27|3,5;DP=55;ECNT=1;GERMQ=57;MBQ=20,20;MFRL=195,207;MMQ=60,60;MPOS=30;NALOD=0.792;NLOD=3.01;POPAF=6;TLOD=8.76;AA=p.?,p.?;CDS=c.*59C>T,c.*59C>T;CNT=2,2;GENE=PRPF38B_ENST00000370021,PRPF38B;HGVSC=ENST00000370021.1:c.*59C>T,ENST00000370025.8:c.*59C>T;HGVSG=1:g.108700079C>T,1:g.108700079C>T;LEGACY_ID=COSN13452772,COSN13452772;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=PRPF38B;GeneDetail.refGene=NM_001349768:c.*59C>T\x3bNM_001349769:c.*59C>T\x3bNM_001349766:c.*59C>T\x3bNM_001349761:c.*59C>T\x3bNM_001349763:c.*59C>T\x3bNM_001349757:c.*59C>T\x3bNM_001349767:c.*59C>T\x3bNM_001349771:c.*59C>T\x3bNM_001349758:c.*59C>T\x3bNM_001349759:c.*59C>T\x3bNM_001349762:c.*59C>T\x3bNM_001349764:c.*59C>T\x3bNM_001349770:c.*59C>T\x3bNM_001349765:c.*59C>T\x3bNM_018061:c.*59C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.081:13:2,0:2,0:10,0:3,10,0,0	0/1:27,8:0.249:35:5,2:7,1:17,5:10,17,3,5
chr1	108733515	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,36|15,18;DP=118;ECNT=1;GERMQ=65;MBQ=20,20;MFRL=161,142;MMQ=60,60;MPOS=33;NALOD=1.37;NLOD=6.26;POPAF=6;RPA=8,7;RU=A;STR;STRQ=93;TLOD=31.82;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FNDC7;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=FNDC7:NM_001144937:exon10:c.2124delA:p.I711Yfs*4;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=1.398e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs750925618;ExAC_ALL=0.0002;ExAC_AFR=9.823e-05;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0003;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.042:35:12,0:6,0:21,0:14,21,0,0	0/1:28,33:0.529:61:8,7:6,8:16,18:13,15,15,18
chr1	108949807	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,22|13,11;DP=72;ECNT=1;GERMQ=45;MBQ=20,20;MFRL=181,151;MMQ=60,60;MPOS=21;NALOD=1.19;NLOD=4.19;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=22.64;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CLCC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.804e-05;AF_raw=2.791e-05;AF_male=2.893e-05;AF_female=2.72e-05;AF_afr=7.164e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.553e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.061:23:6,0:7,0:14,0:13,10,0,0	0/1:24,24:0.518:48:7,6:3,7:12,13:12,12,13,11
chr1	108982550	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=19,8|7,3;DP=39;ECNT=1;GERMQ=54;MBQ=33,20;MFRL=190,186;MMQ=60,60;MPOS=19;NALOD=1.23;NLOD=4.8;POPAF=6;RPA=8,7;RU=A;STR;STRQ=6;TLOD=14.93;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=WDR47;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.019e-06;AF_raw=6.99e-06;AF_male=0;AF_female=1.361e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.553e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.056:19:7,0:6,0:16,0:14,5,0,0	0/1:8,10:0.573:18:2,3:2,4:5,7:5,3,7,3
chr1	109264307	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,50|10,14;DP=125;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,144;MMQ=60,60;MPOS=46;NALOD=1.54;NLOD=9.92;POPAF=6;RPA=3,2;RU=G;STR;STRQ=93;TLOD=36.72;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CELSR2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CELSR2:NM_001408:exon10:c.5232delG:p.G1745Afs*23;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.028:44:12,0:8,0:33,0:19,25,0,0	0/1:48,24:0.364:72:12,4:11,6:27,15:23,25,10,14
chr1	109354555	.	A	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,35|5,9;DP=79;ECNT=1;GERMQ=92;MBQ=20,20;MFRL=186,147;MMQ=60,60;MPOS=23;NALOD=1.47;NLOD=8.43;POPAF=6;TLOD=35.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SORT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.033:41:12,0:14,0:28,0:18,23,0,0	0/1:20,14:0.458:34:4,7:4,0:12,10:8,12,5,9
chr1	109492625	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,50|13,14;DP=122;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,130;MMQ=60,60;MPOS=28;NALOD=1.45;NLOD=8.12;POPAF=6;TLOD=57.76;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=ATXN7L2;GeneDetail.refGene=NM_153340:c.*25C>T\x3bNM_001350175:c.*25C>T\x3bNM_001350174:c.*76C>T\x3bNM_001350177:c.*25C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.981e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs374264847;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.034:41:12,0:11,0:27,0:18,23,0,0	0/1:52,27:0.356:79:13,7:15,7:28,15:25,27,13,14
chr1	109495029	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,9|3,2;DP=34;ECNT=1;GERMQ=32;MBQ=21,20;MFRL=211,154;MMQ=60,60;MPOS=19;NALOD=1.2;NLOD=4.51;POPAF=3.71;TLOD=10.28;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CYB561D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0003;AF_female=0.0005;AF_afr=0.0012;AF_ami=0;AF_amr=0.0003;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0.0005;AF_sas=0.0003;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs189379713;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.059:18:8,0:6,0:15,0:12,6,0,0	0/1:9,5:0.363:14:2,2:4,1:6,3:6,3,3,2
chr1	109715420	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,54|11,15;DP=119;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=185,164;MMQ=60,60;MPOS=27;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=55.86;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GSTM5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.03:50:18,0:11,0:31,0:20,30,0,0	0/1:43,26:0.39:69:10,6:13,7:24,15:19,24,11,15
chr1	110012516	.	ATTT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,12|4,5;DP=32;ECNT=1;GERMQ=22;MBQ=20,20;MFRL=192,179;MMQ=60,60;MPOS=43;NALOD=0.626;NLOD=2.69;POPAF=6;RPA=12,9;RU=T;STR;STRQ=93;TLOD=7.57;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=AHCYL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.086:12:1,0:5,0:9,0:4,8,0,0	0/1:7,9:0.558:16:1,2:3,2:4,5:3,4,4,5
chr1	110341600	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=70,70|22,20;DP=182;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,156;MMQ=60,60;MPOS=36;NALOD=1.72;NLOD=15.65;POPAF=6;TLOD=90.93;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RBM15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM15:NM_001201545:exon1:c.G2195A:p.R732Q,RBM15:NM_022768:exon1:c.G2195A:p.R732Q;cytoBand=1p13.3;SIFT_score=0.009;SIFT_converted_rankscore=0.575;SIFT_pred=D;SIFT4G_score=0.035;SIFT4G_converted_rankscore=0.534;SIFT4G_pred=D;Polyphen2_HDIV_score=0.813;Polyphen2_HDIV_rankscore=0.455;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.101;Polyphen2_HVAR_rankscore=0.331;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.408;LRT_pred=D;MutationTaster_score=0.934;MutationTaster_converted_rankscore=0.371;MutationTaster_pred=D;MutationAssessor_score=1.24;MutationAssessor_rankscore=0.310;MutationAssessor_pred=L;FATHMM_score=2.04;FATHMM_converted_rankscore=0.211;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST4_score=0.227;VEST4_rankscore=0.401;MetaSVM_score=-1.049;MetaSVM_rankscore=0.146;MetaSVM_pred=T;MetaLR_score=0.016;MetaLR_rankscore=0.064;MetaLR_pred=T;MetaRNN_score=0.102;MetaRNN_rankscore=0.187;MetaRNN_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.172;M-CAP_pred=T;REVEL_score=0.052;REVEL_rankscore=0.150;MutPred_score=0.267;MutPred_rankscore=0.214;MVP_score=0.505;MVP_rankscore=0.501;MPC_score=1.185;MPC_rankscore=0.801;PrimateAI_score=0.491;PrimateAI_rankscore=0.376;PrimateAI_pred=T;DEOGEN2_score=0.459;DEOGEN2_rankscore=0.797;DEOGEN2_pred=T;BayesDel_addAF_score=-0.153;BayesDel_addAF_rankscore=0.279;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.374;BayesDel_noAF_rankscore=0.364;BayesDel_noAF_pred=T;ClinPred_score=0.526;ClinPred_rankscore=0.336;ClinPred_pred=D;LIST-S2_score=0.879;LIST-S2_rankscore=0.594;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.400;CADD_raw_rankscore=0.616;CADD_phred=24.4;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.771;fathmm-MKL_coding_rankscore=0.378;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.412;fathmm-XF_coding_rankscore=0.482;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.139;Eigen-raw_coding_rankscore=0.483;Eigen-PC-raw_coding=0.241;Eigen-PC-raw_coding_rankscore=0.521;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.628;integrated_fitCons_rankscore=0.405;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.4;GERP++_RS=4.48;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=4.971;phyloP100way_vertebrate_rankscore=0.635;phyloP30way_mammalian=1.083;phyloP30way_mammalian_rankscore=0.538;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.970;phastCons30way_mammalian_rankscore=0.450;SiPhy_29way_logOdds=14.047;SiPhy_29way_logOdds_rankscore=0.642;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs533597691;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:71,0:0.019:71:25,0:23,0:52,0:34,37,0,0	0/1:69,42:0.378:111:21,10:13,12:39,23:36,33,22,20
chr1	110673263	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,70|18,18;DP=174;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,144;MMQ=60,60;MPOS=26;NALOD=1.64;NLOD=12.84;POPAF=6;TLOD=81.32;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=KCNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA3:NM_002232:exon1:c.G1547A:p.R516Q;cytoBand=1p13.3;SIFT_score=0.137;SIFT_converted_rankscore=0.260;SIFT_pred=T;SIFT4G_score=0.343;SIFT4G_converted_rankscore=0.179;SIFT4G_pred=T;Polyphen2_HDIV_score=0.024;Polyphen2_HDIV_rankscore=0.191;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.155;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.392;LRT_pred=U;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.426;MutationTaster_pred=D;MutationAssessor_score=1.415;MutationAssessor_rankscore=0.356;MutationAssessor_pred=L;FATHMM_score=-4.14;FATHMM_converted_rankscore=0.968;FATHMM_pred=D;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST4_score=0.25;VEST4_rankscore=0.283;MetaSVM_score=0.144;MetaSVM_rankscore=0.849;MetaSVM_pred=D;MetaLR_score=0.699;MetaLR_rankscore=0.896;MetaLR_pred=D;MetaRNN_score=0.150;MetaRNN_rankscore=0.284;MetaRNN_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.467;M-CAP_pred=T;REVEL_score=0.338;REVEL_rankscore=0.664;MutPred_score=0.294;MutPred_rankscore=0.257;MVP_score=0.880;MVP_rankscore=0.879;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.498;PrimateAI_rankscore=0.386;PrimateAI_pred=T;DEOGEN2_score=0.223;DEOGEN2_rankscore=0.587;DEOGEN2_pred=T;BayesDel_addAF_score=0.134;BayesDel_addAF_rankscore=0.678;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.045;BayesDel_noAF_rankscore=0.674;BayesDel_noAF_pred=D;ClinPred_score=0.602;ClinPred_rankscore=0.365;ClinPred_pred=D;LIST-S2_score=0.896;LIST-S2_rankscore=0.638;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=2.744;CADD_raw_rankscore=0.465;CADD_phred=22.9;DANN_score=0.996;DANN_rankscore=0.729;fathmm-MKL_coding_score=0.771;fathmm-MKL_coding_rankscore=0.379;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.216;fathmm-XF_coding_rankscore=0.341;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.004;Eigen-raw_coding_rankscore=0.420;Eigen-PC-raw_coding=0.201;Eigen-PC-raw_coding_rankscore=0.499;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.583;integrated_fitCons_rankscore=0.336;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.91;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=1.862;phyloP100way_vertebrate_rankscore=0.391;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.992;phastCons100way_vertebrate_rankscore=0.376;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=11.538;SiPhy_29way_logOdds_rankscore=0.499;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:66,0:0.022:66:18,0:20,0:43,0:33,33,0,0	0/1:68,36:0.365:104:14,8:21,13:39,22:31,37,18,18
chr1	111192290	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,73|22,23;DP=192;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,142;MMQ=60,60;MPOS=44;NALOD=1.66;NLOD=12.94;POPAF=6;TLOD=99.91;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DENND2D;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DENND2D:NM_001271833:exon8:c.T813C:p.A271A,DENND2D:NM_024901:exon8:c.T822C:p.A274A;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.977e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:78,0:0.022:78:16,0:24,0:43,0:37,41,0,0	0/1:64,45:0.417:109:17,2:16,22:34,24:32,32,22,23
chr1	111281718	.	ACT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,34|10,10;DP=89;ECNT=1;GERMQ=39;MBQ=20,20;MFRL=158,162;MMQ=60,60;MPOS=34;NALOD=1.33;NLOD=6.01;POPAF=3.31;RPA=3,2;RU=CT;STR;STRQ=93;TLOD=40.06;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_exonic;Gene.refGene=CHIAP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0005;AF_female=0.0004;AF_afr=4.762e-05;AF_ami=0;AF_amr=0.0004;AF_asj=0;AF_eas=0;AF_fin=9.577e-05;AF_nfe=0.0006;AF_oth=0.0005;AF_sas=0.0056;ALL.sites.2015_08=0.00119808;AFR.sites.2015_08=.;ALL.sites.2015_08=0.00119808;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0051;avsnp150=rs545076064;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.045:32:10,0:6,0:20,0:15,17,0,0	0/1:32,20:0.4:52:6,6:9,5:17,11:15,17,10,10
chr1	111443385	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,56|17,18;DP=152;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=150,145;MMQ=60,60;MPOS=33;NALOD=1.45;NLOD=8.13;POPAF=4.61;TLOD=80.7;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=WDR77;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=WDR77:NM_001317064:exon5:c.C437T:p.A146V,WDR77:NM_001317062:exon7:c.C629T:p.A210V,WDR77:NM_001317063:exon7:c.C629T:p.A210V,WDR77:NM_024102:exon7:c.C629T:p.A210V;cytoBand=1p13.3;SIFT_score=0.159;SIFT_converted_rankscore=0.238;SIFT_pred=T;SIFT4G_score=0.346;SIFT4G_converted_rankscore=0.177;SIFT4G_pred=T;Polyphen2_HDIV_score=0.084;Polyphen2_HDIV_rankscore=0.248;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.425;LRT_pred=D;MutationTaster_score=0.983;MutationTaster_converted_rankscore=0.399;MutationTaster_pred=D;MutationAssessor_score=1.645;MutationAssessor_rankscore=0.420;MutationAssessor_pred=L;FATHMM_score=1.54;FATHMM_converted_rankscore=0.301;FATHMM_pred=T;PROVEAN_score=-1.35;PROVEAN_converted_rankscore=0.336;PROVEAN_pred=N;VEST4_score=0.095;VEST4_rankscore=0.075;MetaSVM_score=-1.014;MetaSVM_rankscore=0.257;MetaSVM_pred=T;MetaLR_score=0.102;MetaLR_rankscore=0.377;MetaLR_pred=T;MetaRNN_score=0.153;MetaRNN_rankscore=0.289;MetaRNN_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.418;M-CAP_pred=T;REVEL_score=0.086;REVEL_rankscore=0.255;MutPred_score=0.433;MutPred_rankscore=0.483;MVP_score=0.700;MVP_rankscore=0.697;MPC_score=0.271;MPC_rankscore=0.296;PrimateAI_score=0.353;PrimateAI_rankscore=0.183;PrimateAI_pred=T;DEOGEN2_score=0.202;DEOGEN2_rankscore=0.560;DEOGEN2_pred=T;BayesDel_addAF_score=-0.204;BayesDel_addAF_rankscore=0.202;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.531;BayesDel_noAF_rankscore=0.191;BayesDel_noAF_pred=T;ClinPred_score=0.136;ClinPred_rankscore=0.159;ClinPred_pred=T;LIST-S2_score=0.707;LIST-S2_rankscore=0.317;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=2.117;CADD_raw_rankscore=0.330;CADD_phred=20.2;DANN_score=0.959;DANN_rankscore=0.280;fathmm-MKL_coding_score=0.914;fathmm-MKL_coding_rankscore=0.534;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.251;fathmm-XF_coding_rankscore=0.371;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.109;Eigen-raw_coding_rankscore=0.370;Eigen-PC-raw_coding=-0.051;Eigen-PC-raw_coding_rankscore=0.374;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.518;integrated_fitCons_score=0.719;integrated_fitCons_rankscore=0.831;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.83;GERP++_RS=3.93;GERP++_RS_rankscore=0.447;phyloP100way_vertebrate=4.732;phyloP100way_vertebrate_rankscore=0.617;phyloP30way_mammalian=-0.159;phyloP30way_mammalian_rankscore=0.106;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.185;phastCons30way_mammalian_rankscore=0.218;SiPhy_29way_logOdds=11.018;SiPhy_29way_logOdds_rankscore=0.469;Interpro_domain=WD40-repeat-containing_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs774313194;ExAC_ALL=4.767e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.034:50:11,0:15,0:27,0:26,24,0,0	0/1:67,35:0.346:102:19,10:13,7:37,19:35,32,17,18
chr1	111488720	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=84,69|7,6;DP=172;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=159,155;MMQ=60,60;MPOS=31;NALOD=1.64;NLOD=12.6;POPAF=6;TLOD=20.73;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TMIGD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TMIGD3:NM_001302680:exon2:c.T255C:p.T85T,TMIGD3:NM_001081976:exon3:c.T519C:p.T173T,TMIGD3:NM_020683:exon3:c.T762C:p.T254T;cytoBand=1p13.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:70,0:0.023:70:21,0:20,0:42,0:39,31,0,0	0/1:83,13:0.135:96:23,4:24,2:47,7:45,38,7,6
chr1	112416276	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,32|11,12;DP=111;ECNT=1;GERMQ=49;MBQ=20,20;MFRL=167,158;MMQ=60,60;MPOS=34;NALOD=0.858;NLOD=4.18;POPAF=6;RPA=11,9;RU=A;STR;STRQ=93;TLOD=22.01;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CTTNBP2NL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.53e-05;AF_raw=7.313e-05;AF_male=1.598e-05;AF_female=1.469e-05;AF_afr=5.156e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs763914330;ExAC_ALL=0.0012;ExAC_AFR=0.0008;ExAC_AMR=0.0013;ExAC_EAS=0.0029;ExAC_FIN=0.0005;ExAC_NFE=0.0012;ExAC_OTH=0.0020;ExAC_SAS=0.0010;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.052:24:6,0:6,0:14,0:10,14,0,0	0/1:37,23:0.394:60:12,6:7,6:19,12:19,18,11,12
chr1	112653585	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,27|8,10;DP=81;ECNT=2;GERMQ=67;MBQ=20,20;MFRL=159,132;MMQ=60,60;MPOS=39;NALOD=1.33;NLOD=5.7;POPAF=6;RPA=9,8;RU=A;STR;STRQ=18;TLOD=13.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CAPZA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.435e-05;AF_raw=5.631e-05;AF_male=1.486e-05;AF_female=1.387e-05;AF_afr=0;AF_ami=0;AF_amr=7.521e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.569e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs760267484;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0001;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0001;ExAC_OTH=0;ExAC_SAS=6.992e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:30,0:0.045:30:9,0:9,0:19,0:1|0:112653572_TTTA_T:112653572:14,16,0,0	1|0:26,18:0.388:44:7,4:8,4:16,10:1|0:112653572_TTTA_T:112653572:15,11,8,10
chr1	113091254	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,4|7,7;DP=29;ECNT=1;GERMQ=49;MBQ=20,20;MFRL=206,167;MMQ=60,60;MPOS=43;NALOD=0.973;NLOD=2.39;POPAF=6;RPA=9,8;RU=T;STR;STRQ=73;TLOD=13.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LRIG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.097:12:6,0:1,0:8,0:8,4,0,0	0/1:1,14:0.803:15:1,4:0,2:1,7:1,0,7,7
chr1	113705923	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=90,87|28,25;DP=247;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,159;MMQ=60,60;MPOS=24;NALOD=1.48;NLOD=17.01;POPAF=6;RPA=8,7;RU=A;STR;STRQ=93;TLOD=46.52;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PHTF1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PHTF1:NM_001323046:exon10:c.779delT:p.F260Sfs*2,PHTF1:NM_001323049:exon12:c.1637delT:p.F546Sfs*2,PHTF1:NM_006608:exon12:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323041:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323042:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323043:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323044:exon13:c.1511delT:p.F504Sfs*2,PHTF1:NM_001323047:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323048:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323051:exon13:c.1511delT:p.F504Sfs*2,PHTF1:NM_001323052:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323053:exon13:c.1637delT:p.F546Sfs*2,PHTF1:NM_001323045:exon14:c.1511delT:p.F504Sfs*2,PHTF1:NM_001323050:exon14:c.1511delT:p.F504Sfs*2;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:89,0:0.017:89:20,0:27,0:57,0:44,45,0,0	0/1:88,53:0.381:141:27,12:16,16:49,30:46,42,28,25
chr1	113706051	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=102,110|3,2;DP=223;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,148;MMQ=60,60;MPOS=18;NALOD=1.37;NLOD=13.24;POPAF=6;TLOD=6.1;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PHTF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PHTF1:NM_001323046:exon10:c.C652A:p.Q218K,PHTF1:NM_001323049:exon12:c.C1510A:p.Q504K,PHTF1:NM_006608:exon12:c.C1510A:p.Q504K,PHTF1:NM_001323041:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323042:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323043:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323044:exon13:c.C1384A:p.Q462K,PHTF1:NM_001323047:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323048:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323051:exon13:c.C1384A:p.Q462K,PHTF1:NM_001323052:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323053:exon13:c.C1510A:p.Q504K,PHTF1:NM_001323045:exon14:c.C1384A:p.Q462K,PHTF1:NM_001323050:exon14:c.C1384A:p.Q462K;cytoBand=1p13.2;SIFT_score=0.038;SIFT_converted_rankscore=0.539;SIFT_pred=D;SIFT4G_score=0.418;SIFT4G_converted_rankscore=0.190;SIFT4G_pred=T;Polyphen2_HDIV_score=0.102;Polyphen2_HDIV_rankscore=0.374;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.043;Polyphen2_HVAR_rankscore=0.340;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.393;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.498;MutationTaster_pred=D;MutationAssessor_score=2.36;MutationAssessor_rankscore=0.679;MutationAssessor_pred=M;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=-1.14;PROVEAN_converted_rankscore=0.293;PROVEAN_pred=N;VEST4_score=0.671;VEST4_rankscore=0.679;MetaSVM_score=-0.971;MetaSVM_rankscore=0.369;MetaSVM_pred=T;MetaLR_score=0.108;MetaLR_rankscore=0.391;MetaLR_pred=T;MetaRNN_score=0.440;MetaRNN_rankscore=0.581;MetaRNN_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.200;M-CAP_pred=T;REVEL_score=0.250;REVEL_rankscore=0.563;MutPred_score=0.372;MutPred_rankscore=0.383;MVP_score=0.310;MVP_rankscore=0.306;MPC_score=0.217;MPC_rankscore=0.242;PrimateAI_score=0.447;PrimateAI_rankscore=0.315;PrimateAI_pred=T;DEOGEN2_score=0.157;DEOGEN2_rankscore=0.500;DEOGEN2_pred=T;BayesDel_addAF_score=0.097;BayesDel_addAF_rankscore=0.639;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.099;BayesDel_noAF_rankscore=0.635;BayesDel_noAF_pred=T;ClinPred_score=0.853;ClinPred_rankscore=0.504;ClinPred_pred=D;LIST-S2_score=0.865;LIST-S2_rankscore=0.564;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.985;CADD_raw_rankscore=0.517;CADD_phred=23.4;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.998;fathmm-MKL_coding_rankscore=0.992;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.899;fathmm-XF_coding_rankscore=0.844;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.262;Eigen-raw_coding_rankscore=0.542;Eigen-PC-raw_coding=0.404;Eigen-PC-raw_coding_rankscore=0.618;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.42;GERP++_RS=5.42;GERP++_RS_rankscore=0.787;phyloP100way_vertebrate=7.438;phyloP100way_vertebrate_rankscore=0.796;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.973;phastCons30way_mammalian_rankscore=0.457;SiPhy_29way_logOdds=19.206;SiPhy_29way_logOdds_rankscore=0.937;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:70,0:0.022:70:14,0:21,0:44,0:33,37,0,0	0/1:142,5:0.047:147:31,0:40,3:81,3:69,73,3,2
chr1	113940494	COSV65782959	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=83,74|32,37;DP=230;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=174,157;MMQ=60,60;MPOS=47;NALOD=1.77;NLOD=17.46;POPAF=6;TLOD=155.11;AA=p.S37%3D,p.S37%3D,p.S37%3D,p.S37%3D,p.S37%3D,p.S37%3D;CDS=c.111T>C,c.111T>C,c.111T>C,c.111T>C,c.111T>C,c.111T>C;CNT=1,1,1,1,1,1;GENE=HIPK1_ENST00000626993,HIPK1_ENST00000369555,HIPK1_ENST00000426820,HIPK1_ENST00000369561,HIPK1,HIPK1_ENST00000369559;HGVSC=ENST00000626993.2:c.111T>C,ENST00000369555.6:c.111T>C,ENST00000426820.6:c.111T>C,ENST00000369561.8:c.111T>C,ENST00000369558.5:c.111T>C,ENST00000369559.8:c.111T>C;HGVSG=1:g.113940494T>C,1:g.113940494T>C,1:g.113940494T>C,1:g.113940494T>C,1:g.113940494T>C,1:g.113940494T>C;HGVSP=ENSP00000486090.1:p.Ser37%3D,ENSP00000358568.1:p.Ser37%3D,ENSP00000407442.3:p.Ser37%3D,ENSP00000358574.4:p.Ser37%3D,ENSP00000358571.1:p.Ser37%3D,ENSP00000358572.4:p.Ser37%3D;LEGACY_ID=COSM2176878,COSM2176878,COSM2176878,COSM2176878,COSM2176878,COSM2176878;STRAND=+,+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HIPK1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HIPK1:NM_001369806:exon2:c.T111C:p.S37S,HIPK1:NM_001369807:exon2:c.T111C:p.S37S,HIPK1:NM_152696:exon2:c.T111C:p.S37S,HIPK1:NM_198268:exon2:c.T111C:p.S37S;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.991e-06;AF_raw=6.979e-06;AF_male=0;AF_female=1.356e-05;AF_afr=2.386e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:85,0:0.017:85:25,0:30,0:58,0:42,43,0,0	0/1:72,69:0.464:141:23,19:21,18:45,39:41,31,32,37
chr1	114401314	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,14|4,0;DP=35;ECNT=1;GERMQ=47;MBQ=20,37;MFRL=154,223;MMQ=60,60;MPOS=26;NALOD=1.04;NLOD=2.92;POPAF=6;TLOD=12.49;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TRIM33;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.084:15:2,0:4,0:10,0:8,7,0,0	0/1:14,4:0.384:18:1,2:6,2:7,4:7,7,4,0
chr1	114421494	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=88,88|3,3;DP=184;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,163;MMQ=60,60;MPOS=51;NALOD=1.69;NLOD=14.15;POPAF=6;TLOD=6.89;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TRIM33;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM33:NM_015906:exon11:c.T2003C:p.I668T,TRIM33:NM_033020:exon11:c.T2003C:p.I668T;cytoBand=1p13.2;SIFT_score=0.378;SIFT_converted_rankscore=0.113;SIFT_pred=T;SIFT4G_score=0.599;SIFT4G_converted_rankscore=0.082;SIFT4G_pred=T;Polyphen2_HDIV_score=0.993;Polyphen2_HDIV_rankscore=0.688;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.977;Polyphen2_HVAR_rankscore=0.789;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.695;MutationAssessor_rankscore=0.180;MutationAssessor_pred=N;FATHMM_score=0.03;FATHMM_converted_rankscore=0.622;FATHMM_pred=T;PROVEAN_score=-1.08;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST4_score=0.871;VEST4_rankscore=0.868;MetaSVM_score=-0.781;MetaSVM_rankscore=0.563;MetaSVM_pred=T;MetaLR_score=0.215;MetaLR_rankscore=0.577;MetaLR_pred=T;MetaRNN_score=0.686;MetaRNN_rankscore=0.716;MetaRNN_pred=D;M-CAP_score=0.037;M-CAP_rankscore=0.576;M-CAP_pred=D;REVEL_score=0.391;REVEL_rankscore=0.710;MutPred_score=0.384;MutPred_rankscore=0.403;MVP_score=0.484;MVP_rankscore=0.481;MPC_score=0.892;MPC_rankscore=0.703;PrimateAI_score=0.943;PrimateAI_rankscore=0.996;PrimateAI_pred=D;DEOGEN2_score=0.199;DEOGEN2_rankscore=0.556;DEOGEN2_pred=T;BayesDel_addAF_score=0.290;BayesDel_addAF_rankscore=0.822;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.179;BayesDel_noAF_rankscore=0.819;BayesDel_noAF_pred=D;ClinPred_score=0.587;ClinPred_rankscore=0.359;ClinPred_pred=D;LIST-S2_score=0.967;LIST-S2_rankscore=0.878;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.479;CADD_raw_rankscore=0.636;CADD_phred=24.6;DANN_score=0.998;DANN_rankscore=0.889;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.888;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.875;fathmm-XF_coding_rankscore=0.798;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.474;Eigen-raw_coding_rankscore=0.656;Eigen-PC-raw_coding=0.576;Eigen-PC-raw_coding_rankscore=0.732;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.87;GERP++_RS=5.87;GERP++_RS_rankscore=0.943;phyloP100way_vertebrate=8.662;phyloP100way_vertebrate_rankscore=0.909;phyloP30way_mammalian=1.312;phyloP30way_mammalian_rankscore=0.947;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.987;phastCons30way_mammalian_rankscore=0.506;SiPhy_29way_logOdds=16.576;SiPhy_29way_logOdds_rankscore=0.845;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:76,0:0.02:76:20,0:25,0:47,0:37,39,0,0	0/1:100,6:0.069:106:34,1:18,2:53,3:51,49,3,3
chr1	114600125	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,5|6,3;DP=35;ECNT=1;GERMQ=26;MBQ=20,20;MFRL=195,152;MMQ=60,60;MPOS=9;NALOD=1.19;NLOD=4.19;POPAF=3.29;RPA=9,8;RU=A;STR;STRQ=21;TLOD=11.85;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DENND2C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=9.868e-05;AF_raw=0.0001;AF_male=0.0001;AF_female=6.825e-05;AF_afr=0.0002;AF_ami=0;AF_amr=7.388e-05;AF_asj=0;AF_eas=0;AF_fin=9.883e-05;AF_nfe=1.558e-05;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs962939754;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.061:18:7,0:5,0:14,0:14,4,0,0	0/1:2,9:0.785:11:0,2:1,4:1,6:1,1,6,3
chr1	114718229	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,48|37,42;DP=189;ECNT=1;GERMQ=85;MBQ=20,20;MFRL=178,147;MMQ=60,60;MPOS=35;NALOD=-0.06861;NLOD=7.74;POPAF=2.88;RPA=10,9;RU=A;STR;STRQ=93;TLOD=76.35;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CSDE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=9.513e-05;AF_raw=0.0002;AF_male=0.0001;AF_female=8.454e-05;AF_afr=7.468e-05;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=0.0002;AF_nfe=7.998e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs775636582;ExAC_ALL=0.0179;ExAC_AFR=0.0181;ExAC_AMR=0.0122;ExAC_EAS=0.0131;ExAC_FIN=0.0074;ExAC_NFE=0.0212;ExAC_OTH=0.0201;ExAC_SAS=0.0151;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:54,1:0.052:55:13,0:16,1:35,1:25,29,1,0	0/1:33,78:0.694:111:8,25:6,15:19,44:14,19,36,42
chr1	114719745	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,35|8,12;DP=100;ECNT=1;GERMQ=36;MBQ=20,20;MFRL=164,173;MMQ=60,60;MPOS=45;NALOD=1.07;NLOD=5.65;POPAF=2.85;RPA=10,9;RU=A;STR;STRQ=25;TLOD=19.92;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CSDE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.336e-05;AF_raw=0.0001;AF_male=7.485e-05;AF_female=1.397e-05;AF_afr=9.837e-05;AF_ami=0;AF_amr=7.586e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.583e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs763087885;ExAC_ALL=0.0152;ExAC_AFR=0.0173;ExAC_AMR=0.0079;ExAC_EAS=0.0122;ExAC_FIN=0.0025;ExAC_NFE=0.0174;ExAC_OTH=0.0176;ExAC_SAS=0.0173;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.043:31:8,0:4,0:19,0:12,19,0,0	0/1:29,20:0.436:49:10,2:4,6:16,12:13,16,8,12
chr1	114736711	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,13|5,4;DP=51;ECNT=1;GERMQ=53;MBQ=20,20;MFRL=161,172;MMQ=60,60;MPOS=18;NALOD=0.903;NLOD=4.21;POPAF=6;RPA=9,7;RU=A;STR;STRQ=93;TLOD=14.87;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CSDE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.063:18:4,0:9,0:14,0:13,5,0,0	0/1:21,9:0.297:30:6,3:5,2:13,5:13,8,5,4
chr1	114737932	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,32|5,4;DP=95;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=185,171;MMQ=60,60;MPOS=39;NALOD=1.39;NLOD=6.9;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=5.96;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CSDE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.981e-06;AF_raw=6.976e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs777920146;ExAC_ALL=3.3e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.039:32:8,0:14,0:23,0:21,11,0,0	0/1:47,9:0.18:56:11,2:14,3:26,5:26,21,5,4
chr1	114774376	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,28|14,18;DP=87;ECNT=1;GERMQ=24;MBQ=20,20;MFRL=176,157;MMQ=60,60;MPOS=34;NALOD=1.33;NLOD=5.66;POPAF=1.85;RPA=9,8;RU=A;STR;STRQ=93;TLOD=33.4;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SIKE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0081;AF_raw=0.0080;AF_male=0.0090;AF_female=0.0073;AF_afr=0.0025;AF_ami=0.0011;AF_amr=0.0022;AF_asj=0.0009;AF_eas=0.2691;AF_fin=0.0052;AF_nfe=0.0007;AF_oth=0.0180;AF_sas=0.0156;ALL.sites.2015_08=0.0634984;AFR.sites.2015_08=0.0015;ALL.sites.2015_08=0.0634984;EUR.sites.2015_08=0.003;AMR.sites.2015_08=.;EUR.sites.2015_08=0.003;EAS.sites.2015_08=0.3046;SAS.sites.2015_08=0.0061;avsnp150=rs142475097;ExAC_ALL=0.0298;ExAC_AFR=0.0052;ExAC_AMR=0.0056;ExAC_EAS=0.3057;ExAC_FIN=0.0058;ExAC_NFE=0.0057;ExAC_OTH=0.0198;ExAC_SAS=0.0054;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.045:27:6,0:8,0:19,0:11,16,0,0	0/1:18,32:0.6:50:3,4:5,11:12,18:6,12,14,18
chr1	114857167	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,13|16,11;DP=58;ECNT=1;GERMQ=24;MBQ=20,20;MFRL=185,142;MMQ=60,60;MPOS=13;NALOD=0.616;NLOD=3.3;POPAF=2.41;RPA=11,10;RU=A;STR;STRQ=93;TLOD=31.08;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SYCP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0013;AF_male=0.0006;AF_female=0.0004;AF_afr=0.0006;AF_ami=0;AF_amr=0.0003;AF_asj=0.0009;AF_eas=0.0013;AF_fin=0.0019;AF_nfe=0.0003;AF_oth=0;AF_sas=0.0005;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,1:0.08:23:2,1:0,0:14,1:11,11,0,1	0/1:6,26:0.773:32:3,6:0,4:4,16:4,2,16,10
chr1	114913013	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,16|11,10;DP=60;ECNT=1;GERMQ=28;MBQ=20,20;MFRL=222,144;MMQ=60,60;MPOS=16;NALOD=1.02;NLOD=5.64;POPAF=2.63;RPA=10,9;RU=T;STR;STRQ=70;TLOD=15.47;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SYCP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.427e-05;AF_raw=0.0003;AF_male=7.386e-05;AF_female=5.529e-05;AF_afr=4.844e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=7.876e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759851191;ExAC_ALL=0.0180;ExAC_AFR=0.0101;ExAC_AMR=0.0126;ExAC_EAS=0.0125;ExAC_FIN=0.0040;ExAC_NFE=0.0204;ExAC_OTH=0.0180;ExAC_SAS=0.0280;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:26,0:0.048:26:11,0:7,0:19,0:16,10,0,0	0/1:13,21:0.572:34:5,5:2,6:8,11:7,6,11,10
chr1	114926512	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,38|14,14;DP=106;ECNT=1;GERMQ=25;MBQ=20,20;MFRL=163,150;MMQ=60,60;MPOS=36;NALOD=-0.5553;NLOD=4.12;POPAF=3.57;RPA=9,8;RU=A;STR;STRQ=56;TLOD=22.2;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SYCP1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SYCP1:NM_001282541:exon23:c.1876delA:p.G629Vfs*8,SYCP1:NM_001282542:exon23:c.1876delA:p.G629Vfs*8,SYCP1:NM_003176:exon23:c.1876delA:p.G629Vfs*8;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.151e-06;AF_raw=3.523e-05;AF_male=0;AF_female=1.382e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs773157471;ExAC_ALL=0.0032;ExAC_AFR=0.0040;ExAC_AMR=0.0019;ExAC_EAS=0.0056;ExAC_FIN=0.0017;ExAC_NFE=0.0037;ExAC_OTH=0.0032;ExAC_SAS=0.0020;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,1:0.077:37:10,0:9,0:23,1:16,20,0,1	0/1:35,27:0.43:62:9,7:9,7:20,15:17,18,14,13
chr1	114994979	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=56,51|18,20;DP=154;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=174,171;MMQ=60,60;MPOS=42;NALOD=0.049;NLOD=9.29;POPAF=3.23;RPA=10,9;RU=A;STR;STRQ=89;TLOD=26.69;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SYCP1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SYCP1:NM_001282542:exon31:c.2817delA:p.K942Nfs*2,SYCP1:NM_001282541:exon32:c.2892delA:p.K967Nfs*2,SYCP1:NM_003176:exon32:c.2892delA:p.K967Nfs*2;cytoBand=1p13.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0004;AF_female=0.0003;AF_afr=0.0003;AF_ami=0;AF_amr=7.692e-05;AF_asj=0;AF_eas=0.0003;AF_fin=0.0002;AF_nfe=0.0004;AF_oth=0;AF_sas=0.0027;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs756875668;ExAC_ALL=0.0063;ExAC_AFR=0.0042;ExAC_AMR=0.0013;ExAC_EAS=0.0040;ExAC_FIN=0;ExAC_NFE=0.0087;ExAC_OTH=0.0040;ExAC_SAS=0.0049;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,1:0.046:58:19,0:17,0:40,1:31,26,0,1	0/1:50,37:0.427:87:9,11:17,7:27,20:25,25,18,19
chr1	116127746	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=1,14|1,2;DP=19;ECNT=1;GERMQ=45;MBQ=37,20;MFRL=262,91;MMQ=60,60;MPOS=7;NALOD=1.16;NLOD=3.87;POPAF=6;TLOD=6.54;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MAB21L3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.065:13:2,0:2,0:13,0:0,13,0,0	0/1:2,3:0.6:5:1,1:0,0:1,2:1,1,1,2
chr1	117870677	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,37|8,10;DP=102;ECNT=1;GERMQ=80;MBQ=20,20;MFRL=155,165;MMQ=60,60;MPOS=37;NALOD=1.39;NLOD=6.53;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=13.9;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GDAP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.039:34:11,0:4,0:22,0:13,21,0,0	0/1:30,18:0.377:48:8,5:7,5:17,10:14,16,8,10
chr1	117933376	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=80,76|23,24;DP=209;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,152;MMQ=60,60;MPOS=39;NALOD=1.63;NLOD=12.34;POPAF=6;TLOD=97.51;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=WDR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=WDR3:NM_006784:exon2:c.C57T:p.I19I;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.982e-06;AF_raw=6.976e-06;AF_male=0;AF_female=1.355e-05;AF_afr=2.38e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:69,0:0.023:69:17,0:23,0:41,0:34,35,0,0	0/1:87,47:0.342:134:27,14:22,11:49,25:46,41,23,24
chr1	117984715	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=68,71|23,22;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,143;MMQ=60,60;MPOS=38;NALOD=1.67;NLOD=13.5;POPAF=6;RPA=6,5;RU=A;STR;STRQ=93;TLOD=42.48;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SPAG17;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SPAG17:NM_206996:exon41:c.5736delT:p.F1912Lfs*5;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:72,0:0.021:72:17,0:21,0:45,0:34,38,0,0	0/1:67,45:0.409:112:17,11:16,12:35,24:34,33,23,22
chr1	118055709	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,11|5,4;DP=41;ECNT=1;GERMQ=33;MBQ=20,20;MFRL=184,180;MMQ=60,60;MPOS=44;NALOD=1.2;NLOD=4.21;POPAF=4.61;TLOD=20.6;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SPAG17;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.192e-05;AF_raw=4.187e-05;AF_male=5.768e-05;AF_female=2.711e-05;AF_afr=0;AF_ami=0;AF_amr=7.329e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=7.749e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=0.001;SAS.sites.2015_08=.;avsnp150=rs202154261;ExAC_ALL=3.36e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=3.052e-05;ExAC_OTH=0;ExAC_SAS=6.081e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.06:19:3,0:10,0:14,0:12,7,0,0	0/1:9,9:0.5:18:2,3:3,2:5,5:5,4,5,4
chr1	119571510	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,42|5,8;DP=91;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=176,201;MMQ=60,60;MPOS=27;NALOD=1.48;NLOD=8.94;POPAF=6;TLOD=29.14;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_exonic;Gene.refGene=HSD3BP4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,1:0.033:49:16,0:15,0:32,1:19,29,0,1	0/1:26,12:0.346:38:8,3:6,5:16,8:13,13,5,7
chr1	119834802	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=90,89|3,3;DP=188;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=152,154;MMQ=60,60;MPOS=49;NALOD=1.48;NLOD=8.73;POPAF=6;TLOD=8.13;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NBPF7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NBPF7:NM_001047980:exon8:c.C1229T:p.P410L;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs905364771;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.032:50:17,0:10,0:29,0:24,26,0,0	0/1:129,6:0.054:135:41,1:24,2:69,3:66,63,3,3
chr1	120441466	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,16|1,3;DP=28;ECNT=1;GERMQ=44;MBQ=20,28;MFRL=189,172;MMQ=22,32;MPOS=28;NALOD=1.09;NLOD=3.31;POPAF=6;TLOD=7.33;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NBPF8;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NBPF8:NM_001037501:exon8:c.A755G:p.Q252R;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.075:14:7,0:3,0:11,0:4,10,0,0	0/1:9,4:0.363:13:4,3:2,0:6,3:3,6,1,3
chr1	120465968	.	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=82,74|1,3;DP=169;ECNT=2;GERMQ=93;MBQ=20,36;MFRL=161,210;MMQ=60,46;MPOS=8;NALOD=1.62;NLOD=11.75;POPAF=6;TLOD=6.47;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF8;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0076;AF_male=0.0003;AF_female=7.012e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=0.0005;AF_nfe=9.585e-05;AF_oth=0.0010;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:61,0:0.023:61:19,0:16,0:39,0:32,29,0,0	0/1:95,4:0.074:99:27,0:25,2:53,4:50,45,1,3
chr1	120840213	.	AATTTT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,7|1,1;DP=21;ECNT=2;GERMQ=23;MBQ=20,20;MFRL=170,150;MMQ=44,60;MPOS=14;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=7.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF26;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p11.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0042;AF_raw=0.0077;AF_male=0.0044;AF_female=0.0040;AF_afr=0.0013;AF_ami=0;AF_amr=0.0035;AF_asj=0.0037;AF_eas=0;AF_fin=0.0167;AF_nfe=0.0039;AF_oth=0.0028;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:11,0:0.1:11:1,0:4,0:8,0:0|1:120840213_AATTTT_A:120840213:7,4,0,0	0|1:8,2:0.25:10:3,1:2,0:5,1:0|1:120840213_AATTTT_A:120840213:5,3,1,1
chr1	120840222	.	T	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,7|1,1;DP=21;ECNT=2;GERMQ=38;MBQ=20,20;MFRL=170,150;MMQ=44,60;MPOS=10;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=7.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF26;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p11.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0042;AF_raw=0.0078;AF_male=0.0045;AF_female=0.0039;AF_afr=0.0011;AF_ami=0;AF_amr=0.0036;AF_asj=0.0046;AF_eas=0;AF_fin=0.0165;AF_nfe=0.0039;AF_oth=0.0026;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:11,0:0.1:11:2,0:5,0:8,0:0|1:120840213_AATTTT_A:120840213:7,4,0,0	0|1:8,2:0.25:10:3,1:2,0:5,1:0|1:120840213_AATTTT_A:120840213:5,3,1,1
chr1	120984929	.	A	AGTTCTAAAC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,32|0,3;DP=84;ECNT=1;GERMQ=93;MBQ=20,35;MFRL=163,151;MMQ=60,40;MPOS=3;NALOD=1.36;NLOD=6.24;POPAF=6;TLOD=8.31;ANNOVAR_DATE=2020-06-08;Func.refGene=downstream;Gene.refGene=PDE4DIPP4;GeneDetail.refGene=dist\x3d763;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p11.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0007;AF_raw=0.0081;AF_male=0.0007;AF_female=0.0008;AF_afr=0.0010;AF_ami=0.0014;AF_amr=0.0003;AF_asj=0.0008;AF_eas=0;AF_fin=0.0012;AF_nfe=0.0006;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.042:30:10,0:7,0:21,0:16,14,0,0	0/1:45,3:0.125:48:12,1:15,1:27,3:27,18,0,3
chr1	121374786	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,19|14,12;DP=76;ECNT=1;GERMQ=66;MBQ=20,20;MFRL=186,160;MMQ=48,60;MPOS=28;NALOD=1.34;NLOD=6.27;POPAF=6;RPA=9,8;RU=A;STR;STRQ=84;TLOD=23.96;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=SRGAP2-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p11.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.109e-05;AF_raw=0.0002;AF_male=1.452e-05;AF_female=2.725e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.665e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.044:30:8,0:12,0:21,0:20,10,0,0	0/1:20,26:0.556:46:6,9:5,5:11,14:11,9,14,12
chr1	121503685	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,36|3,3;DP=64;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=153,121;MMQ=60,60;MPOS=46;NALOD=1.08;NLOD=6.62;POPAF=3.76;TLOD=4.94;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=SRGAP2-AS1\x3bEMBP1;GeneDetail.refGene=dist\x3d105780\x3bdist\x3d15427;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p11.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0002;AF_afr=0.0006;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.651e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1055337156;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.042:32:8,0:7,0:22,0:10,22,0,0	0/1:26,6:0.21:32:6,1:8,2:14,3:12,14,3,3
chr1	125180180	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,39|2,2;DP=85;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,183;MMQ=45,44;MPOS=26;NALOD=1.45;NLOD=8.12;POPAF=6;TLOD=10.05;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=NONE\x3bNONE;GeneDetail.refGene=dist\x3dNONE\x3bdist\x3dNONE;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.034:39:17,0:9,0:27,0:20,19,0,0	0/1:40,4:0.111:44:10,0:11,2:23,2:20,20,2,2
chr1	144423381	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,22|9,4;DP=68;ECNT=1;GERMQ=17;MBQ=20,26;MFRL=192,182;MMQ=60,43;MPOS=34;NALOD=-0.1818;NLOD=5.55;POPAF=1.37;RPA=12,11;RU=A;STR;STRQ=4;TLOD=9.15;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0601;AF_raw=0.0602;AF_male=0.0576;AF_female=0.0624;AF_afr=0.1809;AF_ami=0.0318;AF_amr=0.0214;AF_asj=0.0121;AF_eas=0;AF_fin=0.0016;AF_nfe=0.0069;AF_oth=0.0446;AF_sas=0.0021;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,1:0.065:36:10,1:14,0:28,1:21,14,1,0	0/1:15,12:0.511:27:4,4:3,4:8,9:7,8,8,4
chr1	145292353	COSV65006190	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,30|3,3;DP=71;ECNT=1;GERMQ=60;MBQ=20,20;MFRL=165,145;MMQ=40,40;MPOS=35;NALOD=1.11;NLOD=3.61;POPAF=2.17;TLOD=9.84;AA=p.?,p.?,p.?,p.?,p.?;CDS=c.15380+28A>G,c.2523-584A>G,c.2523-584A>G,c.16697+28A>G,c.*708+28A>G;CNT=1,1,1,1,1;GENE=NBPF20,NBPF20_ENST00000622803,NBPF20_ENST00000594479,NBPF20_ENST00000369373,NBPF20_ENST00000620821;HGVSC=ENST00000392971.6:c.15380+28A>G,ENST00000622803.4:c.2523-584A>G,ENST00000594479.7:c.2523-584A>G,ENST00000369373.9:c.16697+28A>G,ENST00000620821.1:c.*708+28A>G;HGVSG=1:g.145292353T>C,1:g.145292353T>C,1:g.145292353T>C,1:g.145292353T>C,1:g.145292353T>C;LEGACY_ID=COSN17086174,COSN17086174,COSN17086174,COSN17086174,COSN17086174;STRAND=-,-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0003;AF_raw=0.0018;AF_male=0.0003;AF_female=0.0003;AF_afr=0.0008;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0.0003;AF_fin=0.0003;AF_nfe=4.74e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.071:20:4,0:7,0:12,0:9,11,0,0	0/1:41,6:0.137:47:14,2:9,1:24,3:22,19,3,3
chr1	145519715	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,14|8,6;DP=59;ECNT=1;GERMQ=56;MBQ=20,20;MFRL=206,171;MMQ=60,60;MPOS=39;NALOD=1;NLOD=4.97;POPAF=6;RPA=10,9;RU=T;STR;STRQ=9;TLOD=10.09;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=NBPF20\x3bNBPF25P;GeneDetail.refGene=dist\x3d113938\x3bdist\x3d52629;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0003;AF_raw=0.0005;AF_male=0.0003;AF_female=0.0003;AF_afr=0.0005;AF_ami=0;AF_amr=0.0003;AF_asj=0;AF_eas=0.0006;AF_fin=0.0001;AF_nfe=0.0002;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,1:0.069:29:11,1:10,0:21,1:20,8,1,0	0/1:15,13:0.445:28:5,3:4,3:9,7:9,6,7,6
chr1	145674264	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,48|10,9;DP=133;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,151;MMQ=48,49;MPOS=32;NALOD=1.58;NLOD=10.84;POPAF=4.61;TLOD=37.49;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PDZK1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=1.441e-05;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.026:57:18,0:18,0:36,0:34,23,0,0	0/1:55,19:0.256:74:17,6:13,4:31,10:30,25,10,9
chr1	145823955	COSV100493160	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,14|2,6;DP=27;ECNT=1;GERMQ=41;MBQ=27,26;MFRL=179,155;MMQ=60,60;MPOS=29;NALOD=1.11;NLOD=3.61;POPAF=6;TLOD=22.76;AA=p.?;CDS=c.-82G>A;CNT=1;GENE=RNF115;HGVSC=ENST00000582693.4:c.-82G>A;HGVSG=1:g.145823955C>T;LEGACY_ID=COSN30717070;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=RNF115;GeneDetail.refGene=NM_014455:c.-82G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.071:15:3,0:8,0:12,0:3,12,0,0	0/1:4,8:0.637:12:2,0:1,4:3,6:2,2,2,6
chr1	145848309	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,50|9,11;DP=119;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=174,172;MMQ=60,60;MPOS=25;NALOD=1.54;NLOD=10.23;POPAF=6;TLOD=42.19;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NUDT17;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.028:46:11,0:16,0:34,0:21,25,0,0	0/1:51,20:0.271:71:15,6:13,3:34,12:26,25,9,11
chr1	145975283	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,20|4,2;DP=59;ECNT=1;GERMQ=78;MBQ=20,20;MFRL=176,160;MMQ=60,60;MPOS=27;NALOD=1.03;NLOD=2.71;POPAF=6;TLOD=12.68;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=POLR3GL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.085:14:4,0:5,0:9,0:9,5,0,0	0/1:36,6:0.185:42:9,3:12,1:21,4:21,15,4,2
chr1	146641718	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,44|6,6;DP=95;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=190,140;MMQ=48,48;MPOS=50;NALOD=1.36;NLOD=6.58;POPAF=6;TLOD=22.17;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=HYDIN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0068;AF_raw=0.0411;AF_male=0.0075;AF_female=0.0063;AF_afr=0.0147;AF_ami=0.0013;AF_amr=0.0086;AF_asj=0.0021;AF_eas=0.0128;AF_fin=0.0044;AF_nfe=0.0030;AF_oth=0.0046;AF_sas=0.0086;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs76299392;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.042:34:11,0:7,0:22,0:16,18,0,0	0/1:46,12:0.205:58:13,1:10,5:26,6:20,26,6,6
chr1	147057963	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,3|2,1;DP=13;ECNT=1;GERMQ=32;MBQ=37,20;MFRL=255,175;MMQ=60,60;MPOS=23;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=8.18;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=LOC728989\x3bRNVU1-8;GeneDetail.refGene=dist\x3d14924\x3bdist\x3d26653;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:10,0:0.1:10:5,0:3,0:8,0:7,3,0,0	0/1:0,3:0.75:3:0,0:0,2:0,2:0,0,2,1
chr1	147619694	.	A	AC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,55|12,11;DP=134;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=179,134;MMQ=60,60;MPOS=31;NALOD=1.59;NLOD=11.09;POPAF=4.61;RPA=8,9;RU=C;STR;STRQ=5;TLOD=14.93;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=BCL9;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=BCL9:NM_004326:exon8:c.1540dupC:p.P517Sfs*7;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.156e-06;AF_raw=2.112e-05;AF_male=1.481e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.576e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs782367190;ExAC_ALL=0.0020;ExAC_AFR=0.0028;ExAC_AMR=0.0006;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0030;ExAC_OTH=0.0011;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.025:50:11,0:14,0:37,0:23,27,0,0	0/1:47,23:0.318:70:15,3:7,7:28,13:19,28,12,11
chr1	148091582	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,32|2,1;DP=94;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,185;MMQ=60,60;MPOS=10;NALOD=1.22;NLOD=9.3;POPAF=6;TLOD=5.32;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_splicing;Gene.refGene=PDE4DIPP1;GeneDetail.refGene=NR_146087:exon6:c.786-1G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:45,0:0.03:45:10,0:18,0:31,0:30,15,0,0	0/1:39,3:0.114:42:10,1:12,1:22,2:22,17,2,1
chr1	148103661	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,38|2,2;DP=97;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,178;MMQ=60,37;MPOS=31;NALOD=1.52;NLOD=9.63;POPAF=6;TLOD=5.76;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=NBPF11;GeneDetail.refGene=NM_001101663:c.*235T>G\x3bNM_001385471:c.*235T>G\x3bNM_001385473:c.*235T>G\x3bNM_001385474:c.*235T>G\x3bNM_001385475:c.*235T>G\x3bNM_001385476:c.*235T>G\x3bNM_001385477:c.*235T>G\x3bNM_001385478:c.*235T>G\x3bNM_001385479:c.*235T>G\x3bNM_001385480:c.*235T>G\x3bNM_001385472:c.*235T>G\x3bNM_001385468:c.*235T>G\x3bNM_001385469:c.*235T>G\x3bNM_001385470:c.*235T>G\x3bNM_183372:c.*235T>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0031;AF_male=0.0006;AF_female=0.0004;AF_afr=0.0006;AF_ami=0.0011;AF_amr=0.0005;AF_asj=0.0003;AF_eas=0.0010;AF_fin=0.0011;AF_nfe=0.0004;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.029:46:12,0:18,0:32,0:27,19,0,0	0/1:46,4:0.097:50:13,2:14,0:27,2:27,19,2,2
chr1	148146667	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,84|3,3;DP=171;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,169;MMQ=60,47;MPOS=39;NALOD=1.61;NLOD=11.74;POPAF=6;TLOD=8.13;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF11;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:55,0:0.024:55:21,0:16,0:39,0:26,29,0,0	0/1:106,6:0.062:112:27,3:30,0:59,3:51,55,3,3
chr1	148550710	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=74,75|9,10;DP=171;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=169,137;MMQ=44,42;MPOS=52;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=68.91;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF14;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.786e-05;AF_raw=1.459e-05;AF_male=0;AF_female=3.433e-05;AF_afr=0;AF_ami=0;AF_amr=9.213e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.759e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:44,0:0.038:44:9,0:14,0:24,0:0|1:148550710_G_A:148550710:21,23,0,0	0|1:105,19:0.157:124:28,6:26,3:58,10:0|1:148550710_G_A:148550710:53,52,9,10
chr1	148550730	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,80|9,10;DP=171;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=170,137;MMQ=44,42;MPOS=55;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=68.99;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NBPF14;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=3.573e-05;AF_raw=5.837e-05;AF_male=3.72e-05;AF_female=3.436e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0004;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:44,0:0.038:44:9,0:12,0:24,0:0|1:148550710_G_A:148550710:20,24,0,0	0|1:108,19:0.159:127:29,7:26,3:57,10:0|1:148550710_G_A:148550710:52,56,9,10
chr1	149028541	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,36|1,1;DP=91;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,210;MMQ=60,60;MPOS=44;NALOD=1.43;NLOD=7.83;POPAF=6;RPA=2,1;RU=G;STR;STRQ=93;TLOD=5.4;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PDE4DIP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.036:41:9,0:13,0:26,0:25,16,0,0	0/1:48,2:0.061:50:9,0:19,1:30,1:28,20,1,1
chr1	149072870	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,41|12,10;DP=108;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=188,170;MMQ=48,60;MPOS=41;NALOD=1.3;NLOD=11.13;POPAF=4.13;TLOD=51.05;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NBPF9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NBPF9:NM_001037675:exon9:c.G1154A:p.R385Q,NBPF9:NM_001277444:exon9:c.G1154A:p.R385Q;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=0.427;SIFT4G_converted_rankscore=0.215;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.127;VEST4_rankscore=0.173;MetaSVM_score=-1.096;MetaSVM_rankscore=0.046;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.107;MetaLR_pred=T;MetaRNN_score=0.058;MetaRNN_rankscore=0.067;MetaRNN_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.167;M-CAP_pred=T;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=0.271;MutPred_rankscore=0.220;MVP_score=0.459;MVP_rankscore=0.455;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.564;PrimateAI_rankscore=0.479;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.098;BayesDel_addAF_rankscore=0.367;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.379;BayesDel_noAF_rankscore=0.359;BayesDel_noAF_pred=T;ClinPred_score=0.203;ClinPred_rankscore=0.206;ClinPred_pred=T;LIST-S2_score=0.686;LIST-S2_rankscore=0.294;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=0.147;CADD_raw_rankscore=0.054;CADD_phred=2.546;DANN_score=0.666;DANN_rankscore=0.081;fathmm-MKL_coding_score=0.018;fathmm-MKL_coding_rankscore=0.056;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.035;fathmm-XF_coding_rankscore=0.043;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.706;Eigen-raw_coding_rankscore=0.159;Eigen-PC-raw_coding=-0.870;Eigen-PC-raw_coding_rankscore=0.128;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.012;integrated_fitCons_score=0.638;integrated_fitCons_rankscore=0.432;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=0.416;GERP++_RS=0.416;GERP++_RS_rankscore=0.156;phyloP100way_vertebrate=-0.378;phyloP100way_vertebrate_rankscore=0.075;phyloP30way_mammalian=-0.520;phyloP30way_mammalian_rankscore=0.054;phastCons100way_vertebrate=0.433;phastCons100way_vertebrate_rankscore=0.264;phastCons30way_mammalian=0.010;phastCons30way_mammalian_rankscore=0.119;SiPhy_29way_logOdds=6.722;SiPhy_29way_logOdds_rankscore=0.225;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.718e-05;AF_raw=7.679e-05;AF_male=7.247e-05;AF_female=8.159e-05;AF_afr=4.771e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.225e-05;AF_oth=0;AF_sas=0.0017;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=8.352e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.519e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.025:57:19,0:14,0:37,0:31,26,0,0	0/1:28,22:0.441:50:4,3:11,9:18,14:13,15,12,10
chr1	149464146	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,22|11,10;DP=77;ECNT=1;GERMQ=62;MBQ=20,20;MFRL=180,165;MMQ=25,44;MPOS=52;NALOD=1.23;NLOD=4.81;POPAF=6;TLOD=43;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NOTCH2NLC;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOTCH2NLC:NM_001364012:exon5:c.A704C:p.E235A,NOTCH2NLC:NM_001364013:exon5:c.A875C:p.E292A;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.216;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.96;FATHMM_converted_rankscore=0.851;FATHMM_pred=D;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.189;VEST4_rankscore=0.207;MetaSVM_score=-0.769;MetaSVM_rankscore=0.569;MetaSVM_pred=T;MetaLR_score=0.257;MetaLR_rankscore=0.627;MetaLR_pred=T;MetaRNN_score=0.158;MetaRNN_rankscore=0.297;MetaRNN_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.121;M-CAP_pred=T;REVEL_score=0.262;REVEL_rankscore=0.579;MutPred_score=0.363;MutPred_rankscore=0.369;MVP_score=0.257;MVP_rankscore=0.253;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.509;PrimateAI_rankscore=0.401;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.095;BayesDel_addAF_rankscore=0.372;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.374;BayesDel_noAF_rankscore=0.364;BayesDel_noAF_pred=T;ClinPred_score=0.326;ClinPred_rankscore=0.261;ClinPred_pred=T;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.708;CADD_raw_rankscore=0.252;CADD_phred=17.08;DANN_score=0.972;DANN_rankscore=0.328;fathmm-MKL_coding_score=0.697;fathmm-MKL_coding_rankscore=0.343;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=-0.323;Eigen-raw_coding_rankscore=0.283;Eigen-PC-raw_coding=-0.423;Eigen-PC-raw_coding_rankscore=0.243;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.518;integrated_fitCons_score=0.722;integrated_fitCons_rankscore=0.854;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=2.18;GERP++_RS=2.18;GERP++_RS_rankscore=0.268;phyloP100way_vertebrate=1.958;phyloP100way_vertebrate_rankscore=0.400;phyloP30way_mammalian=1.166;phyloP30way_mammalian_rankscore=0.721;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.394;phastCons30way_mammalian=0.311;phastCons30way_mammalian_rankscore=0.242;SiPhy_29way_logOdds=6.356;SiPhy_29way_logOdds_rankscore=0.206;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.056:21:8,0:8,0:16,0:15,6,0,0	0/1:35,21:0.377:56:7,5:11,6:19,11:19,16,11,10
chr1	149887110	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=100,99|27,24;DP=255;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=172,163;MMQ=60,60;MPOS=31;NALOD=1.75;NLOD=16.25;POPAF=6;TLOD=107.46;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=H2AC20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=H2AC20:NM_003517:exon1:c.G136A:p.A46T;cytoBand=1q21.2;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.149;SIFT4G_converted_rankscore=0.326;SIFT4G_pred=T;Polyphen2_HDIV_score=0.985;Polyphen2_HDIV_rankscore=0.611;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_rankscore=0.609;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.439;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.895;MutationAssessor_rankscore=0.504;MutationAssessor_pred=L;FATHMM_score=-0.57;FATHMM_converted_rankscore=0.713;FATHMM_pred=T;PROVEAN_score=-2.58;PROVEAN_converted_rankscore=0.557;PROVEAN_pred=D;VEST4_score=0.809;VEST4_rankscore=0.805;MetaSVM_score=-0.252;MetaSVM_rankscore=0.763;MetaSVM_pred=T;MetaLR_score=0.391;MetaLR_rankscore=0.745;MetaLR_pred=T;MetaRNN_score=0.745;MetaRNN_rankscore=0.752;MetaRNN_pred=D;M-CAP_score=0.017;M-CAP_rankscore=0.380;M-CAP_pred=T;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=0.336;MutPred_rankscore=0.325;MVP_score=0.884;MVP_rankscore=0.882;MPC_score=2.250;MPC_rankscore=0.961;PrimateAI_score=0.762;PrimateAI_rankscore=0.762;PrimateAI_pred=T;DEOGEN2_score=0.175;DEOGEN2_rankscore=0.525;DEOGEN2_pred=T;BayesDel_addAF_score=0.193;BayesDel_addAF_rankscore=0.733;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.040;BayesDel_noAF_rankscore=0.729;BayesDel_noAF_pred=D;ClinPred_score=0.991;ClinPred_rankscore=0.815;ClinPred_pred=D;LIST-S2_score=0.855;LIST-S2_rankscore=0.541;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=4.239;CADD_raw_rankscore=0.866;CADD_phred=29.0;DANN_score=0.995;DANN_rankscore=0.673;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.779;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.881;fathmm-XF_coding_rankscore=0.808;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.688;Eigen-raw_coding_rankscore=0.789;Eigen-PC-raw_coding=0.675;Eigen-PC-raw_coding_rankscore=0.805;GenoCanyon_score=1.0;GenoCanyon_rankscore=0.983;integrated_fitCons_score=0.267;integrated_fitCons_rankscore=0.048;integrated_confidence_value=1;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.81;GERP++_RS=5.81;GERP++_RS_rankscore=0.924;phyloP100way_vertebrate=8.025;phyloP100way_vertebrate_rankscore=0.891;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.733;phastCons30way_mammalian_rankscore=0.317;SiPhy_29way_logOdds=18.641;SiPhy_29way_logOdds_rankscore=0.914;Interpro_domain=Histone_H2A/H2B/H3;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:79,0:0.018:79:28,0:21,0:54,0:45,34,0,0	0/1:120,51:0.294:171:35,13:24,14:71,29:55,65,27,24
chr1	149926618	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=73,78|19,16;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=176,152;MMQ=60,60;MPOS=29;NALOD=1.72;NLOD=15.6;POPAF=6;TLOD=71.88;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SF3B4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SF3B4:NM_005850:exon3:c.C464T:p.S155L;cytoBand=1q21.2;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.031;SIFT4G_converted_rankscore=0.538;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.981;Polyphen2_HVAR_rankscore=0.752;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.23;MutationAssessor_rankscore=0.096;MutationAssessor_pred=N;FATHMM_score=2.44;FATHMM_converted_rankscore=0.151;FATHMM_pred=T;PROVEAN_score=-5.43;PROVEAN_converted_rankscore=0.861;PROVEAN_pred=D;VEST4_score=0.771;VEST4_rankscore=0.769;MetaSVM_score=-1.112;MetaSVM_rankscore=0.029;MetaSVM_pred=T;MetaLR_score=0.058;MetaLR_rankscore=0.243;MetaLR_pred=T;MetaRNN_score=0.846;MetaRNN_rankscore=0.838;MetaRNN_pred=D;M-CAP_score=0.028;M-CAP_rankscore=0.505;M-CAP_pred=D;REVEL_score=0.458;REVEL_rankscore=0.759;MutPred_score=0.731;MutPred_rankscore=0.865;MVP_score=0.712;MVP_rankscore=0.710;MPC_score=2.862;MPC_rankscore=0.990;PrimateAI_score=0.883;PrimateAI_rankscore=0.944;PrimateAI_pred=D;DEOGEN2_score=0.181;DEOGEN2_rankscore=0.532;DEOGEN2_pred=T;BayesDel_addAF_score=0.126;BayesDel_addAF_rankscore=0.670;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.057;BayesDel_noAF_rankscore=0.666;BayesDel_noAF_pred=D;ClinPred_score=0.998;ClinPred_rankscore=0.937;ClinPred_pred=D;LIST-S2_score=0.936;LIST-S2_rankscore=0.761;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.408;CADD_raw_rankscore=0.902;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.965;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.955;fathmm-XF_coding_rankscore=0.973;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.737;Eigen-raw_coding_rankscore=0.820;Eigen-PC-raw_coding=0.750;Eigen-PC-raw_coding_rankscore=0.862;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.543;integrated_fitCons_rankscore=0.224;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.91;GERP++_RS=4.91;GERP++_RS_rankscore=0.639;phyloP100way_vertebrate=9.756;phyloP100way_vertebrate_rankscore=0.981;phyloP30way_mammalian=1.154;phyloP30way_mammalian_rankscore=0.706;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=17.285;SiPhy_29way_logOdds_rankscore=0.870;Interpro_domain=RNA_recognition_motif_domain|RNA_recognition_motif_domain|RNA_recognition_motif_domain|SF3B4,_RNA_recognition_motif_2\x3bRNA_recognition_motif_domain|RNA_recognition_motif_domain|RNA_recognition_motif_domain|SF3B4,_RNA_recognition_motif_2;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:80,0:0.019:80:26,0:20,0:52,0:38,42,0,0	0/1:71,35:0.322:106:14,7:25,12:41,19:35,36,19,16
chr1	149927272	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=57,61|18,17;DP=162;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,139;MMQ=60,60;MPOS=33;NALOD=1.61;NLOD=11.37;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=29.34;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SF3B4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SF3B4:NM_005850:exon2:c.56delG:p.G19Afs*21;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.024:60:18,0:17,0:38,0:29,31,0,0	0/1:58,35:0.377:93:14,9:14,10:31,19:28,30,18,17
chr1	150280766	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,13|3,3;DP=37;ECNT=1;GERMQ=46;MBQ=20,20;MFRL=182,172;MMQ=60,60;MPOS=36;NALOD=1;NLOD=2.71;POPAF=6;TLOD=11.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=C1orf54;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.091:13:3,0:5,0:9,0:8,5,0,0	0/1:18,6:0.267:24:3,3:7,0:10,3:10,8,3,3
chr1	150498597	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,52|14,16;DP=143;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,152;MMQ=60,60;MPOS=34;NALOD=1.55;NLOD=9.89;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=30.21;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TARS2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TARS2:NM_001271896:exon7:c.945delG:p.G317Dfs*2,TARS2:NM_001271895:exon9:c.1089delG:p.G365Dfs*2,TARS2:NM_025150:exon11:c.1335delG:p.G447Dfs*2;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.028:48:9,0:18,0:33,0:24,24,0,0	0/1:57,30:0.345:87:15,8:16,7:33,17:29,28,14,16
chr1	150704421	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,22|3,3;DP=40;ECNT=1;GERMQ=58;MBQ=20,20;MFRL=188,171;MMQ=60,60;MPOS=31;NALOD=1.2;NLOD=4.52;POPAF=6;TLOD=11.51;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HORMAD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.059:21:7,0:8,0:15,0:7,14,0,0	0/1:13,6:0.308:19:4,2:3,1:8,3:5,8,3,3
chr1	150832413	.	TAA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,45|7,7;DP=107;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=153,158;MMQ=60,60;MPOS=46;NALOD=1.51;NLOD=9.33;POPAF=6;RPA=3,1;RU=A;STR;STRQ=93;TLOD=33.62;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ARNT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.03:49:12,0:14,0:31,0:23,26,0,0	0/1:38,14:0.3:52:12,3:7,4:20,8:19,19,7,7
chr1	150836533	.	G	GA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,23|4,4;DP=49;ECNT=1;GERMQ=48;MBQ=20,20;MFRL=180,163;MMQ=60,60;MPOS=27;NALOD=1.22;NLOD=4.5;POPAF=6;RPA=6,7;RU=A;STR;STRQ=93;TLOD=5.62;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ARNT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.058:22:5,0:4,0:15,0:7,15,0,0	0/1:15,8:0.357:23:3,0:5,4:8,4:7,8,4,4
chr1	151093126	.	TGATGG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,14|1,1;DP=47;ECNT=1;GERMQ=71;MBQ=20,20;MFRL=184,174;MMQ=60,60;MPOS=36;NALOD=1.2;NLOD=4.52;POPAF=6;TLOD=6.67;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GABPB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.059:20:5,0:8,0:15,0:15,5,0,0	0/1:22,2:0.124:24:8,0:3,1:13,1:13,9,1,1
chr1	151133509	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,48|9,10;DP=101;ECNT=1;GERMQ=80;MBQ=20,20;MFRL=168,159;MMQ=60,60;MPOS=22;NALOD=1.36;NLOD=6.58;POPAF=4.61;TLOD=39.92;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SEMA6C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SEMA6C:NM_001178062:exon19:c.C1744T:p.R582W,SEMA6C:NM_030913:exon19:c.C1768T:p.R590W,SEMA6C:NM_001178061:exon20:c.C1864T:p.R622W;cytoBand=1q21.3;SIFT_score=0.237;SIFT_converted_rankscore=0.181;SIFT_pred=T;SIFT4G_score=0.134;SIFT4G_converted_rankscore=0.401;SIFT4G_pred=T;Polyphen2_HDIV_score=0.923;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.399;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.347;LRT_pred=U;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.456;MutationTaster_pred=D;MutationAssessor_score=1.655;MutationAssessor_rankscore=0.424;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.667;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST4_score=0.183;VEST4_rankscore=0.199;MetaSVM_score=-0.789;MetaSVM_rankscore=0.558;MetaSVM_pred=T;MetaLR_score=0.188;MetaLR_rankscore=0.539;MetaLR_pred=T;MetaRNN_score=0.288;MetaRNN_rankscore=0.463;MetaRNN_pred=T;M-CAP_score=0.197;M-CAP_rankscore=0.865;M-CAP_pred=D;REVEL_score=0.256;REVEL_rankscore=0.571;MutPred_score=0.382;MutPred_rankscore=0.400;MVP_score=0.843;MVP_rankscore=0.841;MPC_score=1.131;MPC_rankscore=0.786;PrimateAI_score=0.721;PrimateAI_rankscore=0.702;PrimateAI_pred=T;DEOGEN2_score=0.026;DEOGEN2_rankscore=0.191;DEOGEN2_pred=T;BayesDel_addAF_score=-0.015;BayesDel_addAF_rankscore=0.496;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.259;BayesDel_noAF_rankscore=0.489;BayesDel_noAF_pred=T;ClinPred_score=0.930;ClinPred_rankscore=0.594;ClinPred_pred=D;LIST-S2_score=0.937;LIST-S2_rankscore=0.775;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.192;CADD_raw_rankscore=0.345;CADD_phred=20.8;DANN_score=0.999;DANN_rankscore=0.935;fathmm-MKL_coding_score=0.907;fathmm-MKL_coding_rankscore=0.521;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=0.086;Eigen-raw_coding_rankscore=0.458;Eigen-PC-raw_coding=0.064;Eigen-PC-raw_coding_rankscore=0.428;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.420;integrated_fitCons_score=0.789;integrated_fitCons_rankscore=0.998;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.31;GERP++_RS=3.13;GERP++_RS_rankscore=0.351;phyloP100way_vertebrate=1.417;phyloP100way_vertebrate_rankscore=0.344;phyloP30way_mammalian=0.039;phyloP30way_mammalian_rankscore=0.146;phastCons100way_vertebrate=0.314;phastCons100way_vertebrate_rankscore=0.255;phastCons30way_mammalian=0.852;phastCons30way_mammalian_rankscore=0.353;SiPhy_29way_logOdds=10.621;SiPhy_29way_logOdds_rankscore=0.447;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.042:35:10,0:9,0:22,0:13,22,0,0	0/1:45,19:0.301:64:12,6:10,5:27,11:19,26,9,10
chr1	151166597	.	CTTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,17|9,15;DP=64;ECNT=1;GERMQ=47;MBQ=20,20;MFRL=192,191;MMQ=60,60;MPOS=44;NALOD=0.637;NLOD=3.62;POPAF=6;RPA=14,11;RU=T;STR;STRQ=93;TLOD=23.07;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SCNM1\x3bTNFAIP8L2-SCNM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=1.435e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,1:0.074:19:2,0:4,0:15,1:4,14,0,1	0/1:6,23:0.79:29:2,5:1,5:3,14:3,3,9,14
chr1	151411829	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,29|9,11;DP=77;ECNT=1;GERMQ=26;MBQ=20,20;MFRL=156,162;MMQ=60,60;MPOS=26;NALOD=1.05;NLOD=5.95;POPAF=2.1;RPA=9,8;RU=A;STR;STRQ=36;TLOD=18.1;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=POGZ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0095;AF_raw=0.0095;AF_male=0.0090;AF_female=0.0099;AF_afr=0.0310;AF_ami=0;AF_amr=0.0025;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.298e-05;AF_oth=0.0076;AF_sas=0.0003;ALL.sites.2015_08=0.00658946;AFR.sites.2015_08=0.0227;ALL.sites.2015_08=0.00658946;EUR.sites.2015_08=.;AMR.sites.2015_08=0.0029;EUR.sites.2015_08=.;EAS.sites.2015_08=0.001;SAS.sites.2015_08=.;avsnp150=rs200582720;ExAC_ALL=0.0044;ExAC_AFR=0.0362;ExAC_AMR=0.0017;ExAC_EAS=0.0002;ExAC_FIN=0.0002;ExAC_NFE=0.0013;ExAC_OTH=0;ExAC_SAS=0.0022;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.044:28:3,0:12,0:20,0:12,16,0,0	0/1:23,20:0.462:43:5,7:5,2:13,11:10,13,9,11
chr1	151524174	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,14|2,2;DP=52;ECNT=1;GERMQ=66;MBQ=20,20;MFRL=185,159;MMQ=60,60;MPOS=21;NALOD=1.29;NLOD=5.42;POPAF=4.61;TLOD=6.74;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CGN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.397e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.711e-05;AF_afr=4.767e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.049:24:7,0:11,0:18,0:17,7,0,0	0/1:19,4:0.186:23:4,1:8,1:12,2:12,7,2,2
chr1	151574787	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,1|1,0;DP=14;ECNT=2;GERMQ=38;MBQ=36,33;MFRL=221,164;MMQ=60,60;MPOS=9;NALOD=1;NLOD=2.71;POPAF=6;TLOD=4.97;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TUFT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:9,0:0.091:9:2,0:6,0:9,0:0|1:151574787_T_C:151574787:9,0,0,0	0|1:4,1:0.333:5:1,0:0,1:3,1:0|1:151574787_T_C:151574787:3,1,1,0
chr1	151574791	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,1|1,1;DP=16;ECNT=2;GERMQ=39;MBQ=38,20;MFRL=222,164;MMQ=60,60;MPOS=7;NALOD=1.04;NLOD=3.01;POPAF=6;TLOD=4.97;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TUFT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:10,0:0.083:10:3,0:7,0:10,0:0|1:151574787_T_C:151574787:10,0,0,0	0|1:4,2:0.333:6:2,0:1,1:3,1:0|1:151574787_T_C:151574787:3,1,1,1
chr1	151694350	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=37,34|11,9;DP=92;ECNT=1;GERMQ=41;MBQ=20,20;MFRL=162,159;MMQ=60,60;MPOS=27;NALOD=1.11;NLOD=7.03;POPAF=1.92;RPA=11,10;RU=T;STR;STRQ=23;TLOD=16.66;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=SNX27;GeneDetail.refGene=NM_030918:c.*750delT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0003;AF_raw=0.0014;AF_male=0.0004;AF_female=0.0003;AF_afr=0.0002;AF_ami=0;AF_amr=0.0002;AF_asj=0.0003;AF_eas=0.0003;AF_fin=0.0016;AF_nfe=0.0003;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs771117157;ExAC_ALL=0.3100;ExAC_AFR=0.2413;ExAC_AMR=0.2237;ExAC_EAS=0.3253;ExAC_FIN=0.1084;ExAC_NFE=0.3355;ExAC_OTH=0.2424;ExAC_SAS=0.3345;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.039:41:10,0:13,0:24,0:21,20,0,0	0/1:30,20:0.416:50:8,6:7,5:16,11:16,14,11,9
chr1	151705841	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=89,73|3,3;DP=172;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,106;MMQ=60,60;MPOS=19;NALOD=1.56;NLOD=10.54;POPAF=6;TLOD=8.17;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CELF3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CELF3:NM_001172649:exon10:c.C1101A:p.T367T,CELF3:NM_001172648:exon11:c.C1110A:p.T370T,CELF3:NM_001291106:exon11:c.C1248A:p.T416T,CELF3:NM_001291107:exon11:c.C1248A:p.T416T,CELF3:NM_007185:exon11:c.C1251A:p.T417T;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.027:56:15,0:20,0:35,0:31,25,0,0	0/1:106,6:0.063:112:26,0:32,3:58,3:58,48,3,3
chr1	151801556	.	AG	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,47|13,14;DP=141;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=174,153;MMQ=60,60;MPOS=38;NALOD=1.45;NLOD=7.78;POPAF=4.31;RPA=7,6;RU=G;STR;STRQ=93;TLOD=18.52;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LINGO4;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LINGO4:NM_001004432:exon2:c.1148delC:p.P383Lfs*14;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.791e-05;AF_raw=2.79e-05;AF_male=4.321e-05;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.197e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs770958856;ExAC_ALL=3.333e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.085e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.034:36:12,0:10,0:26,0:21,15,0,0	0/1:65,27:0.279:92:15,6:18,8:37,14:33,32,13,14
chr1	152214701	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=189,402|6,8;DP=618;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=192,174;MMQ=45,45;MPOS=21;NALOD=2.37;NLOD=70.07;POPAF=3.04;TLOD=21.83;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HRNR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HRNR:NM_001009931:exon3:c.G6928A:p.G2310R;cytoBand=1q21.3;SIFT_score=0.803;SIFT_converted_rankscore=0.031;SIFT_pred=T;SIFT4G_score=0.008;SIFT4G_converted_rankscore=0.679;SIFT4G_pred=D;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.732;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.629;Polyphen2_HVAR_rankscore=0.517;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.355;MutationAssessor_rankscore=0.338;MutationAssessor_pred=L;FATHMM_score=3.78;FATHMM_converted_rankscore=0.038;FATHMM_pred=T;PROVEAN_score=-0.94;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST4_score=0.163;VEST4_rankscore=0.171;MetaSVM_score=-0.986;MetaSVM_rankscore=0.337;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.021;MetaLR_pred=T;MetaRNN_score=0.019;MetaRNN_rankscore=0.004;MetaRNN_pred=T;M-CAP_score=0.001;M-CAP_rankscore=0.020;M-CAP_pred=T;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.417;MVP_rankscore=0.413;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.562;PrimateAI_rankscore=0.476;PrimateAI_pred=T;DEOGEN2_score=0.017;DEOGEN2_rankscore=0.141;DEOGEN2_pred=T;BayesDel_addAF_score=-0.338;BayesDel_addAF_rankscore=0.055;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.723;BayesDel_noAF_rankscore=0.047;BayesDel_noAF_pred=T;ClinPred_score=0.024;ClinPred_rankscore=0.011;ClinPred_pred=T;LIST-S2_score=0.429;LIST-S2_rankscore=0.116;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=-0.739;CADD_raw_rankscore=0.009;CADD_phred=0.035;DANN_score=0.662;DANN_rankscore=0.080;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.018;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.032;fathmm-XF_coding_rankscore=0.037;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.955;Eigen-raw_coding_rankscore=0.096;Eigen-PC-raw_coding=-1.228;Eigen-PC-raw_coding_rankscore=0.055;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.054;integrated_fitCons_score=0.554;integrated_fitCons_rankscore=0.252;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.54;GERP++_RS=-4.1;GERP++_RS_rankscore=0.037;phyloP100way_vertebrate=-9.349;phyloP100way_vertebrate_rankscore=0.000;phyloP30way_mammalian=-2.968;phyloP30way_mammalian_rankscore=0.002;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=5.229;SiPhy_29way_logOdds_rankscore=0.147;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0005;AF_raw=0.0011;AF_male=0.0006;AF_female=0.0005;AF_afr=0.0013;AF_ami=0;AF_amr=0.0009;AF_asj=0.0009;AF_eas=0;AF_fin=9.56e-05;AF_nfe=0.0001;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746745560;ExAC_ALL=0.0004;ExAC_AFR=0.0009;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0.0005;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0005;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:319,0:0.004242:319:89,0:107,0:233,0:93,226,0,0	0/1:272,14:0.048:286:89,4:70,3:177,8:96,176,6,8
chr1	152215695	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=796,688|21,18;DP=1579;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=163,155;MMQ=47,47;MPOS=39;NALOD=2.62;NLOD=118.6;POPAF=6;TLOD=58.46;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HRNR;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRNR:NM_001009931:exon3:c.C5934T:p.G1978G;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:642,0:0.002505:642:184,0:177,0:394,0:357,285,0,0	0/1:842,39:0.045:881:221,12:212,9:467,21:439,403,21,18
chr1	152309446	COSV100910509	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=107,104|32,36;DP=290;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=154,138;MMQ=60,60;MPOS=29;NALOD=1.82;NLOD=18.66;POPAF=4.61;TLOD=144.56;AA=p.R1814C;CDS=c.5440C>T;CNT=2;GENE=FLG;HGVSC=ENST00000368799.1:c.5440C>T;HGVSG=1:g.152309446G>A;HGVSP=ENSP00000357789.1:p.Arg1814Cys;LEGACY_ID=COSM8216856;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FLG;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FLG:NM_002016:exon3:c.C5440T:p.R1814C;cytoBand=1q21.3;SIFT_score=0.014;SIFT_converted_rankscore=0.532;SIFT_pred=D;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.852;Polyphen2_HVAR_rankscore=0.608;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.555;MutationAssessor_rankscore=0.746;MutationAssessor_pred=M;FATHMM_score=4.66;FATHMM_converted_rankscore=0.018;FATHMM_pred=T;PROVEAN_score=-0.7;PROVEAN_converted_rankscore=0.199;PROVEAN_pred=N;VEST4_score=0.073;VEST4_rankscore=0.047;MetaSVM_score=-0.984;MetaSVM_rankscore=0.341;MetaSVM_pred=T;MetaLR_score=0.006;MetaLR_rankscore=0.020;MetaLR_pred=T;MetaRNN_score=0.115;MetaRNN_rankscore=0.216;MetaRNN_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.051;M-CAP_pred=T;REVEL_score=0.068;REVEL_rankscore=0.202;MutPred_score=0.25;MutPred_rankscore=0.187;MVP_score=0.260;MVP_rankscore=0.256;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.216;PrimateAI_rankscore=0.011;PrimateAI_pred=T;DEOGEN2_score=0.025;DEOGEN2_rankscore=0.187;DEOGEN2_pred=T;BayesDel_addAF_score=-0.547;BayesDel_addAF_rankscore=0.003;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.722;BayesDel_noAF_rankscore=0.047;BayesDel_noAF_pred=T;ClinPred_score=0.324;ClinPred_rankscore=0.260;ClinPred_pred=T;LIST-S2_score=0.660;LIST-S2_rankscore=0.269;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=1.165;CADD_raw_rankscore=0.172;CADD_phred=13.35;DANN_score=0.525;DANN_rankscore=0.048;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_rankscore=0.039;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.054;fathmm-XF_coding_rankscore=0.097;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.649;Eigen-raw_coding_rankscore=0.175;Eigen-PC-raw_coding=-0.964;Eigen-PC-raw_coding_rankscore=0.106;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.040;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.25;GERP++_RS=-2.98;GERP++_RS_rankscore=0.052;phyloP100way_vertebrate=-0.757;phyloP100way_vertebrate_rankscore=0.049;phyloP30way_mammalian=-0.413;phyloP30way_mammalian_rankscore=0.062;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=0.979;SiPhy_29way_logOdds_rankscore=0.013;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.998e-06;AF_raw=6.978e-06;AF_male=1.445e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=7.343e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs772552807;ExAC_ALL=3.295e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0002;ExAC_FIN=0;ExAC_NFE=2.997e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:99,0:0.015:99:33,0:27,0:62,0:49,50,0,0	0/1:112,68:0.376:180:30,18:31,16:62,37:58,54,32,36
chr1	153310559	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,24|3,3;DP=76;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=171,143;MMQ=60,60;MPOS=15;NALOD=1.3;NLOD=5.71;POPAF=4.31;TLOD=9.73;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PGLYRP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=6.773e-05;AF_afr=0.0002;AF_ami=0;AF_amr=0.0006;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs752392126;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:25,0:0.048:25:6,0:13,0:19,0:18,7,0,0	0/1:43,6:0.129:49:10,2:16,1:26,3:26,17,3,3
chr1	153417993	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,1|1,1;DP=23;ECNT=2;GERMQ=59;MBQ=35,20;MFRL=244,152;MMQ=60,60;MPOS=8;NALOD=1.26;NLOD=5.12;POPAF=6;TLOD=7.7;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=S100A7A\x3bS100A8;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:18,0:0.053:18:6,0:9,0:17,0:0|1:153417993_C_T:153417993:17,1,0,0	0|1:3,2:0.333:5:1,1:2,0:3,1:0|1:153417993_C_T:153417993:3,0,1,1
chr1	153417996	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,1|1,1;DP=23;ECNT=2;GERMQ=59;MBQ=36,20;MFRL=244,152;MMQ=60,60;MPOS=11;NALOD=1.26;NLOD=5.12;POPAF=6;TLOD=7.7;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=S100A7A\x3bS100A8;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:18,0:0.053:18:7,0:10,0:17,0:0|1:153417993_C_T:153417993:17,1,0,0	0|1:3,2:0.333:5:1,1:2,0:3,1:0|1:153417993_C_T:153417993:3,0,1,1
chr1	153422458	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,26|13,11;DP=89;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=177,164;MMQ=60,60;MPOS=30;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=56.98;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=S100A7A;GeneDetail.refGene=NM_176823:c.*3149C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.038:38:11,0:12,0:24,0:22,16,0,0	0/1:27,24:0.471:51:6,10:11,5:17,15:17,10,13,11
chr1	153561481	COSV100905956	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=74,72|20,18;DP=186;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,143;MMQ=60,60;MPOS=38;NALOD=1.68;NLOD=13.85;POPAF=6;TLOD=78.15;AA=p.V84%3D,p.V84%3D,p.?,p.V51%3D,p.V84%3D,p.V84%3D;CDS=c.252C>T,c.252C>T,c.*86C>T,c.153C>T,c.252C>T,c.252C>T;CNT=1,1,1,1,1,1;GENE=S100A2_ENST00000487430,S100A2_ENST00000368709,S100A2_ENST00000368707,S100A2_ENST00000497140,S100A2_ENST00000368710,S100A2;HGVSC=ENST00000487430.6:c.252C>T,ENST00000368709.5:c.252C>T,ENST00000368707.4:c.*86C>T,ENST00000497140.5:c.153C>T,ENST00000368710.5:c.252C>T,ENST00000368708.7:c.252C>T;HGVSG=1:g.153561481G>A,1:g.153561481G>A,1:g.153561481G>A,1:g.153561481G>A,1:g.153561481G>A,1:g.153561481G>A;HGVSP=ENSP00000473260.1:p.Val84%3D,ENSP00000357698.1:p.Val84%3D,ENSP00000473489.1:p.Val51%3D,ENSP00000357699.1:p.Val84%3D,ENSP00000357697.3:p.Val84%3D;LEGACY_ID=COSM8941215,COSM8941215,COSM8941215,COSM8941215,COSM8941215,COSM8941215;STRAND=-,-,-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=S100A2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=S100A2:NM_001366407:exon3:c.C153T:p.V51V,S100A2:NM_005978:exon3:c.C255T:p.V85V;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.02:73:23,0:23,0:46,0:35,38,0,0	0/1:73,38:0.339:111:24,8:16,12:40,20:39,34,20,18
chr1	153687647	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,73|20,20;DP=192;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=153,148;MMQ=60,60;MPOS=18;NALOD=1.65;NLOD=13.24;POPAF=4.01;TLOD=82.24;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NPR1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NPR1:NM_000906:exon14:c.G2106A:p.T702T;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=0.0001;AF_afr=0.0001;AF_ami=0;AF_amr=0.0004;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0.0001;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs150250335;ExAC_ALL=0.0002;ExAC_AFR=0.0003;ExAC_AMR=0.0013;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.542e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:72,0:0.022:72:13,0:27,0:44,0:37,35,0,0	0/1:78,40:0.343:118:20,14:21,5:43,22:40,38,20,20
chr1	153932272	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=54,56|16,13;DP=143;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,148;MMQ=60,60;MPOS=39;NALOD=1.57;NLOD=10.83;POPAF=6;TLOD=62.83;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DENND4B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DENND4B:NM_001367466:exon24:c.C3961T:p.R1321W,DENND4B:NM_014856:exon24:c.C3928T:p.R1310W;cytoBand=1q21.3;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=0.736;Polyphen2_HDIV_rankscore=0.428;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.099;Polyphen2_HVAR_rankscore=0.306;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.57;MutationAssessor_rankscore=0.752;MutationAssessor_pred=M;FATHMM_score=2.03;FATHMM_converted_rankscore=0.210;FATHMM_pred=T;PROVEAN_score=-7.04;PROVEAN_converted_rankscore=0.938;PROVEAN_pred=D;VEST4_score=0.92;VEST4_rankscore=0.923;MetaSVM_score=-1.087;MetaSVM_rankscore=0.061;MetaSVM_pred=T;MetaLR_score=0.023;MetaLR_rankscore=0.099;MetaLR_pred=T;MetaRNN_score=0.847;MetaRNN_rankscore=0.838;MetaRNN_pred=D;M-CAP_score=0.040;M-CAP_rankscore=0.591;M-CAP_pred=D;REVEL_score=0.347;REVEL_rankscore=0.672;MutPred_score=0.743;MutPred_rankscore=0.875;MVP_score=0.516;MVP_rankscore=0.512;MPC_score=1.802;MPC_rankscore=0.917;PrimateAI_score=0.772;PrimateAI_rankscore=0.778;PrimateAI_pred=T;DEOGEN2_score=0.516;DEOGEN2_rankscore=0.830;DEOGEN2_pred=D;BayesDel_addAF_score=0.219;BayesDel_addAF_rankscore=0.757;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.093;BayesDel_noAF_rankscore=0.764;BayesDel_noAF_pred=D;ClinPred_score=0.947;ClinPred_rankscore=0.625;ClinPred_pred=D;LIST-S2_score=0.968;LIST-S2_rankscore=0.885;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.205;CADD_raw_rankscore=0.567;CADD_phred=23.9;DANN_score=0.999;DANN_rankscore=0.987;fathmm-MKL_coding_score=0.951;fathmm-MKL_coding_rankscore=0.633;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.639;fathmm-XF_coding_rankscore=0.617;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.152;Eigen-raw_coding_rankscore=0.489;Eigen-PC-raw_coding=0.172;Eigen-PC-raw_coding_rankscore=0.483;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.427;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.14;GERP++_RS=2.08;GERP++_RS_rankscore=0.261;phyloP100way_vertebrate=4.154;phyloP100way_vertebrate_rankscore=0.579;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.998;phastCons30way_mammalian_rankscore=0.659;SiPhy_29way_logOdds=8.444;SiPhy_29way_logOdds_rankscore=0.320;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.974e-06;AF_male=0;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs765550077;ExAC_ALL=8.396e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.519e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.026:60:20,0:15,0:36,0:31,29,0,0	0/1:50,29:0.354:79:14,7:14,9:30,16:23,27,16,13
chr1	154199551	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,58|3,3;DP=104;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,132;MMQ=60,60;MPOS=27;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=9.25;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=C1orf189;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.038:34:12,0:12,0:24,0:11,23,0,0	0/1:62,6:0.1:68:21,1:11,2:35,3:27,35,3,3
chr1	154328946	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,15|3,3;DP=37;ECNT=1;GERMQ=51;MBQ=20,20;MFRL=165,155;MMQ=60,60;MPOS=46;NALOD=1.14;NLOD=3.82;POPAF=6;TLOD=12.46;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=ATP8B2;GeneDetail.refGene=NM_001367934:c.-42G>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:17,0:0.067:17:5,0:6,0:13,0:9,8,0,0	0/1:13,6:0.356:19:3,3:5,1:8,4:6,7,3,3
chr1	154925313	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,23|2,3;DP=39;ECNT=1;GERMQ=65;MBQ=20,20;MFRL=204,164;MMQ=60,60;MPOS=16;NALOD=1.2;NLOD=4.52;POPAF=6;TLOD=9.22;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PMVK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:17,0:0.059:17:8,0:2,0:15,0:4,13,0,0	0/1:17,5:0.266:22:4,2:5,0:10,3:7,10,2,3
chr1	154965716	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,67|12,12;DP=145;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,170;MMQ=60,60;MPOS=43;NALOD=1.62;NLOD=12.34;POPAF=6;TLOD=47.62;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SHC1;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=SHC1:NM_001130040:exon11:c.C1453T:p.R485X,SHC1:NM_183001:exon11:c.C1450T:p.R484X,SHC1:NM_001130041:exon12:c.C1120T:p.R374X,SHC1:NM_001202859:exon12:c.C985T:p.R329X,SHC1:NM_003029:exon12:c.C1123T:p.R375X;cytoBand=1q21.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.888;VEST4_rankscore=0.887;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.390;BayesDel_addAF_rankscore=0.893;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.491;BayesDel_noAF_rankscore=0.944;BayesDel_noAF_pred=D;ClinPred_score=0.995;ClinPred_rankscore=0.867;ClinPred_pred=D;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3bDominant\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3bHigh\x3b.\x3b.\x3b.\x3b;CADD_raw=8.137;CADD_raw_rankscore=0.989;CADD_phred=41;DANN_score=0.998;DANN_rankscore=0.855;fathmm-MKL_coding_score=0.927;fathmm-MKL_coding_rankscore=0.563;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.219;fathmm-XF_coding_rankscore=0.344;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.680;Eigen-raw_coding_rankscore=0.783;Eigen-PC-raw_coding=0.524;Eigen-PC-raw_coding_rankscore=0.696;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.722;integrated_fitCons_rankscore=0.854;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.76;GERP++_RS=3.83;GERP++_RS_rankscore=0.433;phyloP100way_vertebrate=3.445;phyloP100way_vertebrate_rankscore=0.527;phyloP30way_mammalian=1.158;phyloP30way_mammalian_rankscore=0.712;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=11.990;SiPhy_29way_logOdds_rankscore=0.525;Interpro_domain=SH2_adaptor_protein_C,_SH2_domain\x3b.\x3bSH2_adaptor_protein_C,_SH2_domain\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:64,0:0.023:64:21,0:19,0:41,0:27,37,0,0	0/1:55,24:0.298:79:16,5:14,7:32,13:25,30,12,12
chr1	155175936	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=59,56|17,13;DP=152;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=149,127;MMQ=60,60;MPOS=35;NALOD=1.45;NLOD=8.13;POPAF=6;TLOD=67.85;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TRIM46;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRIM46:NM_001256599:exon3:c.T305C:p.V102A,TRIM46:NM_001256601:exon3:c.T335C:p.V112A,TRIM46:NM_001282379:exon3:c.T374C:p.V125A,TRIM46:NM_025058:exon3:c.T374C:p.V125A;cytoBand=1q22;SIFT_score=0.331;SIFT_converted_rankscore=0.131;SIFT_pred=T;SIFT4G_score=0.669;SIFT4G_converted_rankscore=0.090;SIFT4G_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_rankscore=0.252;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.229;Polyphen2_HVAR_pred=B;LRT_score=0.208;LRT_converted_rankscore=0.164;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.75;MutationAssessor_rankscore=0.190;MutationAssessor_pred=N;FATHMM_score=0.64;FATHMM_converted_rankscore=0.583;FATHMM_pred=T;PROVEAN_score=-1.47;PROVEAN_converted_rankscore=0.360;PROVEAN_pred=N;VEST4_score=0.151;VEST4_rankscore=0.155;MetaSVM_score=-1.083;MetaSVM_rankscore=0.069;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_rankscore=0.195;MetaLR_pred=T;MetaRNN_score=0.061;MetaRNN_rankscore=0.076;MetaRNN_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.102;M-CAP_pred=T;REVEL_score=0.061;REVEL_rankscore=0.180;MutPred_score=0.501;MutPred_rankscore=0.593;MVP_score=0.174;MVP_rankscore=0.170;MPC_score=0.889;MPC_rankscore=0.701;PrimateAI_score=0.452;PrimateAI_rankscore=0.322;PrimateAI_pred=T;DEOGEN2_score=0.022;DEOGEN2_rankscore=0.384;DEOGEN2_pred=T;BayesDel_addAF_score=-0.233;BayesDel_addAF_rankscore=0.162;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.573;BayesDel_noAF_rankscore=0.152;BayesDel_noAF_pred=T;ClinPred_score=0.078;ClinPred_rankscore=0.097;ClinPred_pred=T;LIST-S2_score=0.563;LIST-S2_rankscore=0.274;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=1.583;CADD_raw_rankscore=0.232;CADD_phred=16.27;DANN_score=0.973;DANN_rankscore=0.333;fathmm-MKL_coding_score=0.081;fathmm-MKL_coding_rankscore=0.141;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.096;fathmm-XF_coding_rankscore=0.194;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.668;Eigen-raw_coding_rankscore=0.169;Eigen-PC-raw_coding=-0.557;Eigen-PC-raw_coding_rankscore=0.206;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.657;integrated_fitCons_rankscore=0.488;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.26;GERP++_RS=1.63;GERP++_RS_rankscore=0.229;phyloP100way_vertebrate=0.070;phyloP100way_vertebrate_rankscore=0.144;phyloP30way_mammalian=0.198;phyloP30way_mammalian_rankscore=0.227;phastCons100way_vertebrate=0.006;phastCons100way_vertebrate_rankscore=0.174;phastCons30way_mammalian=0.997;phastCons30way_mammalian_rankscore=0.620;SiPhy_29way_logOdds=7.087;SiPhy_29way_logOdds_rankscore=0.244;Interpro_domain=Zinc_finger,_RING-type\x3b.\x3b.\x3bZinc_finger,_RING-type\x3b.\x3bZinc_finger,_RING-type\x3bZinc_finger,_RING-type;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.034:48:11,0:15,0:27,0:23,25,0,0	0/1:67,30:0.321:97:19,10:17,7:37,17:36,31,17,13
chr1	155201179	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,70|9,9;DP=157;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=147,132;MMQ=60,60;MPOS=38;NALOD=1.29;NLOD=11.14;POPAF=6;TLOD=35.28;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=THBS3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=THBS3:NM_001252608:exon10:c.G995A:p.G332E,THBS3:NM_001252607:exon11:c.G1328A:p.G443E,THBS3:NM_007112:exon12:c.G1355A:p.G452E;cytoBand=1q22;SIFT_score=0.001;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.75;MutationAssessor_rankscore=0.950;MutationAssessor_pred=H;FATHMM_score=-4.66;FATHMM_converted_rankscore=0.980;FATHMM_pred=D;PROVEAN_score=-7.36;PROVEAN_converted_rankscore=0.946;PROVEAN_pred=D;VEST4_score=0.933;VEST4_rankscore=0.949;MetaSVM_score=1.089;MetaSVM_rankscore=0.992;MetaSVM_pred=D;MetaLR_score=0.967;MetaLR_rankscore=0.989;MetaLR_pred=D;MetaRNN_score=0.911;MetaRNN_rankscore=0.904;MetaRNN_pred=D;M-CAP_score=0.515;M-CAP_rankscore=0.954;M-CAP_pred=D;REVEL_score=0.951;REVEL_rankscore=0.991;MutPred_score=0.621;MutPred_rankscore=0.756;MVP_score=0.910;MVP_rankscore=0.909;MPC_score=1.308;MPC_rankscore=0.831;PrimateAI_score=0.847;PrimateAI_rankscore=0.892;PrimateAI_pred=D;DEOGEN2_score=0.774;DEOGEN2_rankscore=0.940;DEOGEN2_pred=D;BayesDel_addAF_score=0.591;BayesDel_addAF_rankscore=0.974;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.610;BayesDel_noAF_rankscore=0.973;BayesDel_noAF_pred=D;ClinPred_score=0.999;ClinPred_rankscore=0.959;ClinPred_pred=D;LIST-S2_score=0.992;LIST-S2_rankscore=0.973;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=3.818;CADD_raw_rankscore=0.727;CADD_phred=25.9;DANN_score=0.998;DANN_rankscore=0.874;fathmm-MKL_coding_score=0.931;fathmm-MKL_coding_rankscore=0.573;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.924;fathmm-XF_coding_rankscore=0.901;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.864;Eigen-raw_coding_rankscore=0.899;Eigen-PC-raw_coding=0.749;Eigen-PC-raw_coding_rankscore=0.861;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.45;GERP++_RS=4.45;GERP++_RS_rankscore=0.534;phyloP100way_vertebrate=7.905;phyloP100way_vertebrate_rankscore=0.865;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.997;phastCons30way_mammalian_rankscore=0.620;SiPhy_29way_logOdds=14.955;SiPhy_29way_logOdds_rankscore=0.708;Interpro_domain=EGF-like,_conserved_site|EGF-like_domain|EGF-like_domain\x3bEGF-like,_conserved_site|EGF-like_domain|EGF-like_domain\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.026:57:6,0:20,0:37,0:26,31,0,0	0/1:74,18:0.207:92:25,8:10,1:41,10:35,39,9,9
chr1	155212392	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=46,43|9,8;DP=108;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,166;MMQ=46,60;MPOS=32;NALOD=1.54;NLOD=10.22;POPAF=6;RPA=5,4;RU=T;STR;STRQ=93;TLOD=16.07;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MTX1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=MTX1:NM_198883:exon4:c.687delT:p.T229fs,MTX1:NM_002455:exon5:c.780delT:p.T260fs;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:52,0:0.028:52:17,0:11,0:34,0:26,26,0,0	0/1:37,17:0.312:54:13,5:7,4:21,9:20,17,9,8
chr1	155322286	.	T	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,40|11,10;DP=113;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,155;MMQ=60,60;MPOS=27;NALOD=1.5;NLOD=9.28;POPAF=6;TLOD=43.14;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RUSC1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RUSC1:NM_001105203:exon2:c.T513G:p.S171S,RUSC1:NM_001105204:exon2:c.T513G:p.S171S;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.03:44:13,0:17,0:31,0:24,20,0,0	0/1:46,21:0.326:67:15,9:10,3:26,12:26,20,11,10
chr1	155357403	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,44|4,7;DP=96;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=174,167;MMQ=60,60;MPOS=42;NALOD=1.23;NLOD=4.51;POPAF=6;TLOD=16.44;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ASH1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ASH1L:NM_001366177:exon15:c.A6983G:p.H2328R,ASH1L:NM_018489:exon15:c.A6968G:p.H2323R;cytoBand=1q22;SIFT_score=0.052;SIFT_converted_rankscore=0.393;SIFT_pred=T;SIFT4G_score=0.479;SIFT4G_converted_rankscore=0.119;SIFT4G_pred=T;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_rankscore=0.665;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.651;Polyphen2_HVAR_rankscore=0.586;Polyphen2_HVAR_pred=P;LRT_score=0.009;LRT_converted_rankscore=0.307;LRT_pred=N;MutationTaster_score=0.974;MutationTaster_converted_rankscore=0.391;MutationTaster_pred=D;MutationAssessor_score=0.55;MutationAssessor_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-2.31;FATHMM_converted_rankscore=0.877;FATHMM_pred=D;PROVEAN_score=-2.14;PROVEAN_converted_rankscore=0.485;PROVEAN_pred=N;VEST4_score=0.612;VEST4_rankscore=0.629;MetaSVM_score=-0.182;MetaSVM_rankscore=0.781;MetaSVM_pred=T;MetaLR_score=0.415;MetaLR_rankscore=0.762;MetaLR_pred=T;MetaRNN_score=0.450;MetaRNN_rankscore=0.586;MetaRNN_pred=T;M-CAP_score=0.058;M-CAP_rankscore=0.671;M-CAP_pred=D;REVEL_score=0.330;REVEL_rankscore=0.656;MutPred_score=0.16;MutPred_rankscore=0.064;MVP_score=0.809;MVP_rankscore=0.807;MPC_score=1.776;MPC_rankscore=0.913;PrimateAI_score=0.649;PrimateAI_rankscore=0.598;PrimateAI_pred=T;DEOGEN2_score=0.032;DEOGEN2_rankscore=0.224;DEOGEN2_pred=T;BayesDel_addAF_score=0.022;BayesDel_addAF_rankscore=0.546;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.106;BayesDel_noAF_rankscore=0.629;BayesDel_noAF_pred=T;ClinPred_score=0.643;ClinPred_rankscore=0.382;ClinPred_pred=D;LIST-S2_score=0.862;LIST-S2_rankscore=0.556;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.144;CADD_raw_rankscore=0.553;CADD_phred=23.7;DANN_score=0.976;DANN_rankscore=0.349;fathmm-MKL_coding_score=0.917;fathmm-MKL_coding_rankscore=0.542;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.277;fathmm-XF_coding_rankscore=0.392;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.239;Eigen-raw_coding_rankscore=0.531;Eigen-PC-raw_coding=0.296;Eigen-PC-raw_coding_rankscore=0.553;GenoCanyon_score=0.469;GenoCanyon_rankscore=0.207;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.67;GERP++_RS=4.67;GERP++_RS_rankscore=0.581;phyloP100way_vertebrate=4.357;phyloP100way_vertebrate_rankscore=0.592;phyloP30way_mammalian=1.125;phyloP30way_mammalian_rankscore=0.571;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.852;phastCons30way_mammalian_rankscore=0.353;SiPhy_29way_logOdds=13.933;SiPhy_29way_logOdds_rankscore=0.635;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs759290621;ExAC_ALL=8.241e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=6.058e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,1:0.056:21:7,0:4,0:15,0:8,12,0,1	0/1:58,10:0.159:68:14,1:18,4:36,6:26,32,4,6
chr1	155591028	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,64|14,15;DP=174;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,169;MMQ=60,60;MPOS=19;NALOD=1.59;NLOD=11.14;POPAF=6;TLOD=59.58;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=ASH1L-AS1\x3bMSTO1;GeneDetail.refGene=dist\x3d27084\x3bdist\x3d19142;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.025:60:19,0:17,0:37,0:34,26,0,0	0/1:81,29:0.279:110:17,6:26,9:43,16:43,38,14,15
chr1	155615627	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=58,55|2,2;DP=120;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,181;MMQ=48,54;MPOS=12;NALOD=1.5;NLOD=9.03;POPAF=6;TLOD=5.27;ANNOVAR_DATE=2020-06-08;Func.refGene=downstream;Gene.refGene=MSTO1\x3bMSTO2P;GeneDetail.refGene=dist\x3d660;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.031:47:19,0:10,0:30,0:24,23,0,0	0/1:66,4:0.075:70:21,1:13,1:36,2:34,32,2,2
chr1	155661432	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,26|4,6;DP=52;ECNT=1;GERMQ=58;MBQ=20,20;MFRL=224,147;MMQ=57,59;MPOS=51;NALOD=1.22;NLOD=4.5;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=11.83;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=YY1AP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.058:19:4,0:6,0:15,0:4,15,0,0	0/1:18,10:0.368:28:3,0:4,5:11,6:7,11,4,6
chr1	155729005	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,15|11,5;DP=55;ECNT=1;GERMQ=55;MBQ=20,20;MFRL=174,183;MMQ=60,60;MPOS=31;NALOD=1.26;NLOD=5.06;POPAF=6;RPA=8,7;RU=T;STR;STRQ=33;TLOD=23.9;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DAP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768025714;ExAC_ALL=0.0004;ExAC_AFR=0.0003;ExAC_AMR=0.0003;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0006;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.052:23:11,0:5,0:17,0:14,9,0,0	0/1:13,16:0.602:29:3,6:4,5:7,11:7,6,11,5
chr1	155751839	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,48|2,2;DP=106;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=180,159;MMQ=48,48;MPOS=69;NALOD=1.37;NLOD=6.62;POPAF=6;TLOD=5.44;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GON4L;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GON4L:NM_001282856:exon31:c.C6504T:p.C2168C,GON4L:NM_001282858:exon31:c.C6501T:p.C2167C,GON4L:NM_001282860:exon31:c.C6504T:p.C2168C;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.041:35:12,0:8,0:22,0:18,17,0,0	0/1:64,4:0.077:68:19,2:16,0:35,2:33,31,2,2
chr1	155754524	.	GTTTTTTTT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=4,11|2,4;DP=32;ECNT=1;GERMQ=11;MBQ=11,20;MFRL=176,189;MMQ=60,60;MPOS=50;NALOD=0.308;NLOD=2.37;POPAF=6;RPA=23,15;RU=T;STR;STRQ=93;TLOD=16.17;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GON4L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:8,0:0.094:8:1,0:0,0:8,0:0,8,0,0	0/1:7,6:0.523:13:1,1:3,1:4,4:4,3,2,4
chr1	155813614	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,27|10,9;DP=88;ECNT=1;GERMQ=64;MBQ=20,20;MFRL=170,149;MMQ=60,60;MPOS=29;NALOD=1.3;NLOD=5.42;POPAF=6;TLOD=40.23;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GON4L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.048:30:8,0:9,0:18,0:17,13,0,0	0/1:29,19:0.395:48:7,6:10,4:17,11:15,14,10,9
chr1	155853392	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=56,50|22,24;DP=157;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,138;MMQ=60,60;MPOS=41;NALOD=1.53;NLOD=9.93;POPAF=6;TLOD=102.88;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GON4L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GON4L:NM_001282856:exon2:c.G389T:p.R130I,GON4L:NM_001282858:exon2:c.G389T:p.R130I,GON4L:NM_001282860:exon2:c.G389T:p.R130I,GON4L:NM_001282861:exon2:c.G389T:p.R130I,GON4L:NM_032292:exon2:c.G389T:p.R130I;cytoBand=1q22;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.002;SIFT4G_converted_rankscore=0.794;SIFT4G_pred=D;Polyphen2_HDIV_score=0.917;Polyphen2_HDIV_rankscore=0.707;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.548;Polyphen2_HVAR_rankscore=0.784;Polyphen2_HVAR_pred=P;LRT_score=0.101;LRT_converted_rankscore=0.199;LRT_pred=N;MutationTaster_score=0.805;MutationTaster_converted_rankscore=0.291;MutationTaster_pred=N;MutationAssessor_score=2.175;MutationAssessor_rankscore=0.610;MutationAssessor_pred=M;FATHMM_score=2.51;FATHMM_converted_rankscore=0.166;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.639;PROVEAN_pred=D;VEST4_score=0.388;VEST4_rankscore=0.429;MetaSVM_score=-1.083;MetaSVM_rankscore=0.069;MetaSVM_pred=T;MetaLR_score=0.029;MetaLR_rankscore=0.123;MetaLR_pred=T;MetaRNN_score=0.180;MetaRNN_rankscore=0.332;MetaRNN_pred=T;M-CAP_score=0.008;M-CAP_rankscore=0.222;M-CAP_pred=T;REVEL_score=0.080;REVEL_rankscore=0.238;MutPred_score=0.429;MutPred_rankscore=0.477;MVP_score=0.271;MVP_rankscore=0.267;MPC_score=0.302;MPC_rankscore=0.326;PrimateAI_score=0.313;PrimateAI_rankscore=0.123;PrimateAI_pred=T;DEOGEN2_score=0.090;DEOGEN2_rankscore=0.386;DEOGEN2_pred=T;BayesDel_addAF_score=-0.138;BayesDel_addAF_rankscore=0.302;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.436;BayesDel_noAF_rankscore=0.293;BayesDel_noAF_pred=T;ClinPred_score=0.933;ClinPred_rankscore=0.599;ClinPred_pred=D;LIST-S2_score=0.924;LIST-S2_rankscore=0.722;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.180;CADD_raw_rankscore=0.561;CADD_phred=23.8;DANN_score=0.972;DANN_rankscore=0.328;fathmm-MKL_coding_score=0.770;fathmm-MKL_coding_rankscore=0.378;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.072;fathmm-XF_coding_rankscore=0.144;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.031;Eigen-raw_coding_rankscore=0.433;Eigen-PC-raw_coding=-0.009;Eigen-PC-raw_coding_rankscore=0.393;GenoCanyon_score=0.995;GenoCanyon_rankscore=0.339;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.59;GERP++_RS=2.69;GERP++_RS_rankscore=0.309;phyloP100way_vertebrate=0.891;phyloP100way_vertebrate_rankscore=0.279;phyloP30way_mammalian=0.138;phyloP30way_mammalian_rankscore=0.195;phastCons100way_vertebrate=0.987;phastCons100way_vertebrate_rankscore=0.363;phastCons30way_mammalian=0.996;phastCons30way_mammalian_rankscore=0.595;SiPhy_29way_logOdds=6.122;SiPhy_29way_logOdds_rankscore=0.194;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.029:50:18,0:12,0:33,0:26,24,0,0	0/1:56,46:0.439:102:10,13:21,11:31,24:30,26,22,24
chr1	155914364	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,15|6,13;DP=55;ECNT=1;GERMQ=39;MBQ=20,20;MFRL=224,173;MMQ=60,60;MPOS=25;NALOD=0.885;NLOD=3.34;POPAF=6;RPA=11,9;RU=A;STR;STRQ=93;TLOD=27.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KHDC4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=2.896e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs771467832;ExAC_ALL=0.0010;ExAC_AFR=0.0012;ExAC_AMR=0.0011;ExAC_EAS=0.0013;ExAC_FIN=0.0024;ExAC_NFE=0.0008;ExAC_OTH=0.0027;ExAC_SAS=0.0007;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.071:16:7,0:0,0:11,0:5,11,0,0	0/1:7,19:0.739:26:4,5:0,4:4,13:3,4,6,13
chr1	155961895	COSV100560341	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=37,47|11,9;DP=112;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,134;MMQ=60,60;MPOS=28;NALOD=1.46;NLOD=8.43;POPAF=6;TLOD=41.37;AA=p.R412C,p.R384C,p.R457C,p.R411C;CDS=c.1234C>T,c.1150C>T,c.1369C>T,c.1231C>T;CNT=1,1,1,1;GENE=ARHGEF2,ARHGEF2_ENST00000313695,ARHGEF2_ENST00000462460,ARHGEF2_ENST00000313667;HGVSC=ENST00000361247.8:c.1234C>T,ENST00000313695.11:c.1150C>T,ENST00000462460.6:c.1369C>T,ENST00000313667.8:c.1231C>T;HGVSG=1:g.155961895G>A,1:g.155961895G>A,1:g.155961895G>A,1:g.155961895G>A;HGVSP=ENSP00000354837.4:p.Arg412Cys,ENSP00000315325.7:p.Arg384Cys,ENSP00000476916.1:p.Arg457Cys,ENSP00000314787.4:p.Arg411Cys;LEGACY_ID=COSM8210029,COSM8210029,COSM8210029,COSM8210029;STRAND=-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARHGEF2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ARHGEF2:NM_001162383:exon11:c.C1234T:p.R412C,ARHGEF2:NM_001162384:exon11:c.C1231T:p.R411C,ARHGEF2:NM_001350110:exon11:c.C1153T:p.R385C,ARHGEF2:NM_001350111:exon11:c.C1153T:p.R385C,ARHGEF2:NM_001350112:exon11:c.C1180T:p.R394C,ARHGEF2:NM_004723:exon11:c.C1150T:p.R384C;cytoBand=1q22;SIFT_score=0.012;SIFT_converted_rankscore=0.547;SIFT_pred=D;SIFT4G_score=0.049;SIFT4G_converted_rankscore=0.483;SIFT4G_pred=D;Polyphen2_HDIV_score=0.683;Polyphen2_HDIV_rankscore=0.415;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.436;Polyphen2_HVAR_rankscore=0.456;Polyphen2_HVAR_pred=B;LRT_score=0.535;LRT_converted_rankscore=0.116;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.345;MutationAssessor_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=-0.42;FATHMM_converted_rankscore=0.695;FATHMM_pred=T;PROVEAN_score=-2.51;PROVEAN_converted_rankscore=0.560;PROVEAN_pred=D;VEST4_score=0.258;VEST4_rankscore=0.292;MetaSVM_score=-0.991;MetaSVM_rankscore=0.324;MetaSVM_pred=T;MetaLR_score=0.120;MetaLR_rankscore=0.420;MetaLR_pred=T;MetaRNN_score=0.168;MetaRNN_rankscore=0.314;MetaRNN_pred=T;M-CAP_score=0.055;M-CAP_rankscore=0.660;M-CAP_pred=D;REVEL_score=0.237;REVEL_rankscore=0.545;MutPred_score=0.555;MutPred_rankscore=0.673;MVP_score=0.775;MVP_rankscore=0.773;MPC_score=1.266;MPC_rankscore=0.822;PrimateAI_score=0.320;PrimateAI_rankscore=0.134;PrimateAI_pred=T;DEOGEN2_score=0.269;DEOGEN2_rankscore=0.642;DEOGEN2_pred=T;BayesDel_addAF_score=-0.161;BayesDel_addAF_rankscore=0.266;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.288;BayesDel_noAF_rankscore=0.460;BayesDel_noAF_pred=T;ClinPred_score=0.118;ClinPred_rankscore=0.142;ClinPred_pred=T;LIST-S2_score=0.887;LIST-S2_rankscore=0.614;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.192;CADD_raw_rankscore=0.345;CADD_phred=20.8;DANN_score=0.996;DANN_rankscore=0.728;fathmm-MKL_coding_score=0.091;fathmm-MKL_coding_rankscore=0.149;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.228;fathmm-XF_coding_rankscore=0.352;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.552;Eigen-raw_coding_rankscore=0.204;Eigen-PC-raw_coding=-0.523;Eigen-PC-raw_coding_rankscore=0.215;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.731;integrated_fitCons_rankscore=0.879;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.86;GERP++_RS=3.93;GERP++_RS_rankscore=0.447;phyloP100way_vertebrate=0.530;phyloP100way_vertebrate_rankscore=0.227;phyloP30way_mammalian=0.245;phyloP30way_mammalian_rankscore=0.263;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.331;phastCons30way_mammalian_rankscore=0.246;SiPhy_29way_logOdds=10.362;SiPhy_29way_logOdds_rankscore=0.432;Interpro_domain=.\x3bDbl_homology_(DH)_domain|Dbl_homology_(DH)_domain|Dbl_homology_(DH)_domain|Dbl_homology_(DH)_domain\x3bDbl_homology_(DH)_domain|Dbl_homology_(DH)_domain|Dbl_homology_(DH)_domain|Dbl_homology_(DH)_domain\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs781587819;ExAC_ALL=2.486e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.51e-05;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.033:41:12,0:14,0:28,0:16,25,0,0	0/1:43,20:0.292:63:12,7:16,4:28,11:21,22,11,9
chr1	155969471	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,23|7,4;DP=66;ECNT=1;GERMQ=57;MBQ=20,20;MFRL=174,161;MMQ=60,60;MPOS=15;NALOD=1.23;NLOD=4.81;POPAF=4.31;TLOD=25.17;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ARHGEF2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.791e-05;AF_raw=2.79e-05;AF_male=1.44e-05;AF_female=4.062e-05;AF_afr=9.513e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1047040601;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.056:23:8,0:8,0:16,0:14,9,0,0	0/1:31,11:0.286:42:9,5:10,2:19,7:17,14,7,4
chr1	156061514	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,19|5,7;DP=50;ECNT=1;GERMQ=42;MBQ=20,20;MFRL=206,172;MMQ=60,60;MPOS=26;NALOD=1.11;NLOD=3.3;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=14.37;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RAB25;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.073:14:3,0:3,0:11,0:5,9,0,0	0/1:16,12:0.421:28:3,3:3,3:10,7:6,10,5,7
chr1	156268080	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,31|2,2;DP=82;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,116;MMQ=60,60;MPOS=36;NALOD=1.2;NLOD=4.51;POPAF=6;TLOD=5.71;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SMG5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.98e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=7.321e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.059:24:3,0:12,0:15,0:15,9,0,0	0/1:51,4:0.091:55:13,0:16,2:29,2:29,22,2,2
chr1	156273531	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=7,23|2,2;DP=36;ECNT=2;GERMQ=40;MBQ=31,20;MFRL=200,152;MMQ=60,60;MPOS=24;NALOD=1.18;NLOD=4.21;POPAF=4.31;TLOD=7.01;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SMG5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q22;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=3.491e-05;AF_raw=3.488e-05;AF_male=2.882e-05;AF_female=4.064e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=0.0008;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs528542684;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.063:18:9,0:4,0:14,0:4,14,0,0	0/1:12,4:0.229:16:7,2:2,0:9,2:3,9,2,2
chr1	156564671	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,45|13,12;DP=125;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,157;MMQ=60,60;MPOS=44;NALOD=1.41;NLOD=7.52;POPAF=6;TLOD=53.81;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=IQGAP3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=IQGAP3:NM_178229:exon5:c.G381T:p.T127T;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.037:44:13,0:11,0:25,0:23,21,0,0	0/1:53,25:0.298:78:8,6:22,7:32,13:29,24,13,12
chr1	156727204	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,51|9,14;DP=127;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,177;MMQ=60,60;MPOS=29;NALOD=1.46;NLOD=8.13;POPAF=6;TLOD=46.37;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ISG20L2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ISG20L2:NM_001303095:exon2:c.A449G:p.H150R,ISG20L2:NM_001370150:exon2:c.A449G:p.H150R,ISG20L2:NM_001370151:exon2:c.A449G:p.H150R,ISG20L2:NM_001370152:exon2:c.A449G:p.H150R;cytoBand=1q23.1;SIFT_score=0.885;SIFT_converted_rankscore=0.025;SIFT_pred=T;SIFT4G_score=0.531;SIFT4G_converted_rankscore=0.101;SIFT4G_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.122;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.101;Polyphen2_HVAR_pred=B;LRT_score=0.188;LRT_converted_rankscore=0.032;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=2.0;FATHMM_converted_rankscore=0.215;FATHMM_pred=T;PROVEAN_score=-0.29;PROVEAN_converted_rankscore=0.117;PROVEAN_pred=N;VEST4_score=0.02;VEST4_rankscore=0.003;MetaSVM_score=-0.991;MetaSVM_rankscore=0.325;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.036;MetaLR_pred=T;MetaRNN_score=0.032;MetaRNN_rankscore=0.013;MetaRNN_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.051;M-CAP_pred=T;REVEL_score=0.013;REVEL_rankscore=0.018;MutPred_score=0.314;MutPred_rankscore=0.289;MVP_score=0.143;MVP_rankscore=0.140;MPC_score=0.360;MPC_rankscore=0.377;PrimateAI_score=0.228;PrimateAI_rankscore=0.018;PrimateAI_pred=T;DEOGEN2_score=0.001;DEOGEN2_rankscore=0.008;DEOGEN2_pred=T;BayesDel_addAF_score=-0.369;BayesDel_addAF_rankscore=0.036;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.768;BayesDel_noAF_rankscore=0.028;BayesDel_noAF_pred=T;ClinPred_score=0.033;ClinPred_rankscore=0.024;ClinPred_pred=T;LIST-S2_score=0.268;LIST-S2_rankscore=0.045;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=-0.104;CADD_raw_rankscore=0.034;CADD_phred=0.815;DANN_score=0.533;DANN_rankscore=0.049;fathmm-MKL_coding_score=0.078;fathmm-MKL_coding_rankscore=0.138;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.041;fathmm-XF_coding_rankscore=0.062;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.180;Eigen-raw_coding_rankscore=0.053;Eigen-PC-raw_coding=-1.148;Eigen-PC-raw_coding_rankscore=0.068;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.752;integrated_fitCons_rankscore=0.988;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.53;GERP++_RS=2.56;GERP++_RS_rankscore=0.298;phyloP100way_vertebrate=-0.222;phyloP100way_vertebrate_rankscore=0.092;phyloP30way_mammalian=-1.338;phyloP30way_mammalian_rankscore=0.016;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.004;phastCons30way_mammalian_rankscore=0.091;SiPhy_29way_logOdds=7.035;SiPhy_29way_logOdds_rankscore=0.242;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.034:36:10,0:14,0:27,0:16,20,0,0	0/1:62,23:0.301:85:19,7:14,7:36,15:31,31,9,14
chr1	156874829	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,8|4,4;DP=32;ECNT=1;GERMQ=43;MBQ=20,20;MFRL=195,191;MMQ=60,60;MPOS=13;NALOD=1.11;NLOD=3.6;POPAF=6;RPA=6,5;RU=A;STR;STRQ=93;TLOD=10.43;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NTRK1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.072:15:4,0:7,0:12,0:10,5,0,0	0/1:8,8:0.5:16:1,2:4,3:5,5:5,3,4,4
chr1	156876225	.	CG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,28|5,7;DP=82;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=173,154;MMQ=60,60;MPOS=29;NALOD=1.43;NLOD=6.88;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=13.59;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NTRK1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs779663841;ExAC_ALL=8.293e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.507e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.036:33:11,0:7,0:23,0:14,19,0,0	0/1:16,12:0.443:28:6,3:1,3:9,7:7,9,5,7
chr1	156984343	COSV100809823	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=53,45|14,13;DP=131;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,134;MMQ=60,60;MPOS=39;NALOD=1.44;NLOD=7.83;POPAF=6;TLOD=58.42;AA=p.R73%3D,p.R73%3D;CDS=c.219G>A,c.219G>A;CNT=1,1;GENE=ARHGEF11,ARHGEF11_ENST00000361409;HGVSC=ENST00000368194.7:c.219G>A,ENST00000361409.2:c.219G>A;HGVSG=1:g.156984343C>T,1:g.156984343C>T;HGVSP=ENSP00000357177.3:p.Arg73%3D,ENSP00000354644.2:p.Arg73%3D;LEGACY_ID=COSM8704147,COSM8704147;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARHGEF11;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ARHGEF11:NM_001377418:exon3:c.G207A:p.R69R,ARHGEF11:NM_001377419:exon3:c.G219A:p.R73R,ARHGEF11:NM_014784:exon3:c.G219A:p.R73R,ARHGEF11:NM_198236:exon3:c.G219A:p.R73R;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs745855825;ExAC_ALL=2.606e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.035:40:8,0:15,0:26,0:22,18,0,0	0/1:58,27:0.306:85:16,9:14,5:33,14:31,27,14,13
chr1	157709036	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,17|7,6;DP=60;ECNT=2;GERMQ=52;MBQ=20,20;MFRL=164,146;MMQ=60,60;MPOS=22;NALOD=1.14;NLOD=3.61;POPAF=6;TLOD=27.14;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=FCRL3\x3bFCRL2;GeneDetail.refGene=dist\x3d8267\x3bdist\x3d36697;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.068:18:5,0:6,0:12,0:11,7,0,0	0/1:26,13:0.32:39:9,3:7,4:16,7:16,10,7,6
chr1	158182851	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=57,37|11,8;DP=115;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=175,161;MMQ=60,60;MPOS=30;NALOD=-0.07158;NLOD=6.78;POPAF=6;RPA=7,6;RU=C;STR;STRQ=93;TLOD=15.2;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CD1D;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766516559;ExAC_ALL=9.012e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.559e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,1:0.056:47:14,1:14,0:32,1:30,16,1,0	0/1:48,18:0.274:66:15,7:13,3:28,10:27,21,10,8
chr1	158293646	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=4,17|2,6;DP=30;ECNT=1;GERMQ=38;MBQ=35,28;MFRL=192,174;MMQ=60,60;MPOS=3;NALOD=1.08;NLOD=3.31;POPAF=6;TLOD=21.76;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=CD1C;GeneDetail.refGene=NM_001765:c.*170C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.077:13:6,0:5,0:11,0:2,11,0,0	0/1:8,8:0.5:16:1,3:4,1:6,6:2,6,2,6
chr1	158329876	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,46|18,15;DP=128;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,161;MMQ=60,60;MPOS=39;NALOD=1.57;NLOD=10.84;POPAF=6;TLOD=72.26;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CD1B;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=CD1B:NM_001764:exon3:c.G583T:p.G195X;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.006;LRT_converted_rankscore=0.323;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=0.622;VEST4_rankscore=0.637;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.371;BayesDel_addAF_rankscore=0.881;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.295;BayesDel_noAF_rankscore=0.879;BayesDel_noAF_pred=D;ClinPred_score=0.993;ClinPred_rankscore=0.831;ClinPred_pred=D;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=Recessive\x3b;Aloft_Confidence=High\x3b;CADD_raw=7.028;CADD_raw_rankscore=0.971;CADD_phred=37;DANN_score=0.992;DANN_rankscore=0.556;fathmm-MKL_coding_score=0.100;fathmm-MKL_coding_rankscore=0.156;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.038;fathmm-XF_coding_rankscore=0.052;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.608;Eigen-raw_coding_rankscore=0.737;Eigen-PC-raw_coding=0.316;Eigen-PC-raw_coding_rankscore=0.565;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.526;integrated_fitCons_rankscore=0.218;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.46;GERP++_RS=4.46;GERP++_RS_rankscore=0.536;phyloP100way_vertebrate=2.006;phyloP100way_vertebrate_rankscore=0.405;phyloP30way_mammalian=0.795;phyloP30way_mammalian_rankscore=0.314;phastCons100way_vertebrate=0.091;phastCons100way_vertebrate_rankscore=0.226;phastCons30way_mammalian=0.026;phastCons30way_mammalian_rankscore=0.149;SiPhy_29way_logOdds=12.800;SiPhy_29way_logOdds_rankscore=0.570;Interpro_domain=MHC_class_I-like_antigen_recognition-like|Immunoglobulin-like_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.026:56:17,0:16,0:36,0:29,27,0,0	0/1:37,33:0.463:70:12,9:9,9:21,18:18,19,18,15
chr1	158454534	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,14|3,1;DP=46;ECNT=1;GERMQ=71;MBQ=33,29;MFRL=203,188;MMQ=60,60;MPOS=30;NALOD=1.16;NLOD=3.87;POPAF=6;TLOD=8.98;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=OR10K2\x3bOR10K1;GeneDetail.refGene=dist\x3d33668\x3bdist\x3d11028;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.065:14:9,0:2,0:13,0:9,5,0,0	0/1:23,4:0.181:27:9,2:8,1:17,3:14,9,3,1
chr1	158611205	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,7|4,3;DP=32;ECNT=1;GERMQ=40;MBQ=20,20;MFRL=176,170;MMQ=60,60;MPOS=11;NALOD=1.04;NLOD=2.99;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=8.69;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR3;Gene.refGene=SPTA1;GeneDetail.refGene=NM_003126:c.*58delG;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.421e-05;AF_raw=1.407e-05;AF_male=1.472e-05;AF_female=1.374e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.121e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.084:13:4,0:6,0:10,0:10,3,0,0	0/1:11,7:0.426:18:5,4:2,1:7,5:7,4,4,3
chr1	158613893	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,39|6,9;DP=96;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=172,149;MMQ=60,60;MPOS=24;NALOD=1.45;NLOD=7.51;POPAF=6;RPA=3,2;RU=T;STR;STRQ=93;TLOD=18.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SPTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.035:36:7,0:9,0:25,0:14,22,0,0	0/1:30,15:0.356:45:7,5:6,4:17,9:13,17,6,9
chr1	158666507	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,31|6,6;DP=68;ECNT=1;GERMQ=68;MBQ=20,20;MFRL=174,155;MMQ=60,60;MPOS=47;NALOD=1.42;NLOD=7.53;POPAF=4.61;TLOD=24.37;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SPTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.396e-05;AF_raw=1.395e-05;AF_male=2.881e-05;AF_female=0;AF_afr=4.761e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746695850;ExAC_ALL=8.584e-06;ExAC_AFR=0;ExAC_AMR=8.969e-05;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.036:41:10,0:13,0:25,0:19,22,0,0	0/1:15,12:0.412:27:3,3:5,3:9,6:6,9,6,6
chr1	158669482	.	G	GT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=90,86|15,15;DP=213;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=145,138;MMQ=60,60;MPOS=34;NALOD=1.69;NLOD=14.11;POPAF=6;RPA=5,6;RU=T;STR;STRQ=93;TLOD=23.51;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SPTA1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=SPTA1:NM_003126:exon14:c.1758dupA:p.L587Tfs*3;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:76,0:0.02:76:18,0:21,0:47,0:40,36,0,0	0/1:100,30:0.222:130:28,9:23,7:58,16:50,50,15,15
chr1	158843316	.	G	GA	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=82,73|18,19;DP=200;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,143;MMQ=60,60;MPOS=34;NALOD=0.362;NLOD=12.16;POPAF=6;RPA=7,8;RU=A;STR;STRQ=93;TLOD=28.95;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MNDA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=MNDA:NM_002432:exon3:c.304dupA:p.I104Nfs*42;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs751496931;ExAC_ALL=8.495e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.547e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:82,1:0.037:83:22,0:27,0:50,1:44,38,0,1	0/1:73,36:0.342:109:19,9:19,9:39,20:38,35,18,18
chr1	159062696	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,33|43,42;DP=161;ECNT=1;GERMQ=69;MBQ=20,20;MFRL=163,149;MMQ=60,60;MPOS=38;NALOD=0.36;NLOD=5.05;POPAF=2.31;RPA=10,9;RU=T;STR;STRQ=93;TLOD=85.99;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=AIM2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=AIM2:NM_001348247:exon5:c.712delA:p.T238Hfs*14,AIM2:NM_004833:exon6:c.1027delA:p.T343Hfs*14;cytoBand=1q23.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0030;AF_raw=0.0032;AF_male=0.0030;AF_female=0.0029;AF_afr=0.0010;AF_ami=0;AF_amr=0.0032;AF_asj=0.0074;AF_eas=0;AF_fin=0.0023;AF_nfe=0.0043;AF_oth=0.0044;AF_sas=0.0007;ALL.sites.2015_08=0.00559105;AFR.sites.2015_08=0.0076;ALL.sites.2015_08=0.00559105;EUR.sites.2015_08=0.003;AMR.sites.2015_08=0.0043;EUR.sites.2015_08=0.003;EAS.sites.2015_08=0.002;SAS.sites.2015_08=0.0102;avsnp150=rs531843702;ExAC_ALL=0.0271;ExAC_AFR=0.0173;ExAC_AMR=0.0206;ExAC_EAS=0.0238;ExAC_FIN=0.0134;ExAC_NFE=0.0330;ExAC_OTH=0.0152;ExAC_SAS=0.0224;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,2:0.071:41:13,0:9,1:23,1:22,17,1,1	0/1:29,83:0.728:112:6,17:8,25:17,46:13,16,42,41
chr1	159440097	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=66,62|16,17;DP=166;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,153;MMQ=60,60;MPOS=36;NALOD=1.63;NLOD=12.28;POPAF=6;RPA=6,5;RU=T;STR;STRQ=93;TLOD=35.27;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=OR10J1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OR10J1:NM_012351:exon1:c.307delT:p.F104Lfs*2,OR10J1:NM_001363558:exon4:c.307delT:p.F104Lfs*2,OR10J1:NM_001363557:exon5:c.307delT:p.F104Lfs*2;cytoBand=1q23.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.023:62:22,0:14,0:41,0:32,30,0,0	0/1:66,33:0.357:99:19,9:13,7:35,19:34,32,16,17
chr1	159973048	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,42|12,8;DP=108;ECNT=1;GERMQ=84;MBQ=20,20;MFRL=157,138;MMQ=60,60;MPOS=15;NALOD=1.5;NLOD=9.03;POPAF=3.29;TLOD=47.73;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=LINC01133;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0006;AF_raw=0.0006;AF_male=0.0007;AF_female=0.0006;AF_afr=0.0020;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.196e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.000399361;AFR.sites.2015_08=0.0015;ALL.sites.2015_08=0.000399361;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs536219450;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.03:44:16,0:13,0:30,0:23,21,0,0	0/1:40,20:0.378:60:13,7:9,6:22,13:19,21,12,8
chr1	160124351	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=95,98|4,3;DP=200;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,144;MMQ=60,60;MPOS=49;NALOD=1.64;NLOD=12.93;POPAF=6;RPA=2,1;RU=G;STR;STRQ=93;TLOD=6.46;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ATP1A2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ATP1A2:NM_000702:exon6:c.552delG:p.V185Wfs*7;cytoBand=1q23.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:76,0:0.022:76:18,0:21,0:43,0:37,39,0,0	0/1:117,7:0.072:124:32,0:27,4:63,4:58,59,4,3
chr1	160171235	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,43|2,2;DP=100;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,150;MMQ=60,60;MPOS=47;NALOD=1.43;NLOD=7.83;POPAF=6;TLOD=5.54;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ATP1A4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.036:38:9,0:13,0:26,0:21,17,0,0	0/1:55,4:0.086:59:16,1:13,1:31,2:29,26,2,2
chr1	160370933	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,9|18,12;DP=92;ECNT=1;GERMQ=78;MBQ=31,20;MFRL=160,179;MMQ=60,60;MPOS=29;NALOD=1.44;NLOD=7.73;POPAF=6;TLOD=66.9;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NHLH1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NHLH1:NM_005598:exon2:c.C202T:p.R68C;cytoBand=1q23.2;SIFT_score=0.024;SIFT_converted_rankscore=0.477;SIFT_pred=D;SIFT4G_score=0.077;SIFT4G_converted_rankscore=0.424;SIFT4G_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_rankscore=0.732;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.539;Polyphen2_HVAR_rankscore=0.488;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.523;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.975;MutationAssessor_rankscore=0.535;MutationAssessor_pred=M;FATHMM_score=-4.02;FATHMM_converted_rankscore=0.964;FATHMM_pred=D;PROVEAN_score=-5.59;PROVEAN_converted_rankscore=0.865;PROVEAN_pred=D;VEST4_score=0.404;VEST4_rankscore=0.445;MetaSVM_score=0.640;MetaSVM_rankscore=0.924;MetaSVM_pred=D;MetaLR_score=0.741;MetaLR_rankscore=0.911;MetaLR_pred=D;MetaRNN_score=0.420;MetaRNN_rankscore=0.568;MetaRNN_pred=T;M-CAP_score=0.181;M-CAP_rankscore=0.855;M-CAP_pred=D;REVEL_score=0.543;REVEL_rankscore=0.812;MutPred_score=0.365;MutPred_rankscore=0.372;MVP_score=0.743;MVP_rankscore=0.741;MPC_score=1.858;MPC_rankscore=0.924;PrimateAI_score=0.922;PrimateAI_rankscore=0.985;PrimateAI_pred=D;DEOGEN2_score=0.757;DEOGEN2_rankscore=0.934;DEOGEN2_pred=D;BayesDel_addAF_score=0.174;BayesDel_addAF_rankscore=0.715;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.012;BayesDel_noAF_rankscore=0.711;BayesDel_noAF_pred=D;ClinPred_score=0.976;ClinPred_rankscore=0.710;ClinPred_pred=D;LIST-S2_score=0.982;LIST-S2_rankscore=0.939;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.288;CADD_raw_rankscore=0.587;CADD_phred=24.1;DANN_score=0.999;DANN_rankscore=0.950;fathmm-MKL_coding_score=0.858;fathmm-MKL_coding_rankscore=0.450;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.213;fathmm-XF_coding_rankscore=0.339;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.282;Eigen-raw_coding_rankscore=0.553;Eigen-PC-raw_coding=0.309;Eigen-PC-raw_coding_rankscore=0.561;GenoCanyon_score=0.997;GenoCanyon_rankscore=0.355;integrated_fitCons_score=0.633;integrated_fitCons_rankscore=0.413;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.05;GERP++_RS=4.05;GERP++_RS_rankscore=0.464;phyloP100way_vertebrate=0.955;phyloP100way_vertebrate_rankscore=0.288;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.686;phastCons100way_vertebrate_rankscore=0.285;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=15.308;SiPhy_29way_logOdds_rankscore=0.737;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.035:29:11,0:11,0:26,0:25,4,0,0	0/1:24,30:0.484:54:8,13:7,5:22,20:19,5,18,12
chr1	160550019	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,46|10,13;DP=108;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=180,165;MMQ=60,60;MPOS=12;NALOD=1.45;NLOD=8.13;POPAF=6;TLOD=49.38;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CD84;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.034:44:9,0:18,0:27,0:20,24,0,0	0/1:40,23:0.368:63:9,6:11,5:23,13:18,22,10,13
chr1	160634884	.	AG	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,67|1,1;DP=138;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=169,167;MMQ=60,60;MPOS=55;NALOD=1.56;NLOD=9.47;POPAF=6;TLOD=5.77;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SLAMF1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SLAMF1:NM_001330754:exon3:c.428delC:p.T143Ifs*7,SLAMF1:NM_003037:exon3:c.428delC:p.T143Ifs*7;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:51,0:0.028:51:12,0:14,0:32,0:0|1:160634884_AG_A:160634884:22,29,0,0	0|1:68,2:0.047:70:15,0:16,1:39,1:0|1:160634884_AG_A:160634884:30,38,1,1
chr1	161054436	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,43|12,12;DP=108;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=143,134;MMQ=60,60;MPOS=25;NALOD=1.42;NLOD=7.53;POPAF=6;TLOD=48.29;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARHGAP30;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ARHGAP30:NM_001287600:exon4:c.G22A:p.A8T,ARHGAP30:NM_001025598:exon5:c.G466A:p.A156T,ARHGAP30:NM_181720:exon5:c.G466A:p.A156T;cytoBand=1q23.3;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;SIFT4G_score=0.003;SIFT4G_converted_rankscore=0.765;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.863;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.31;MutationAssessor_rankscore=0.661;MutationAssessor_pred=M;FATHMM_score=2.07;FATHMM_converted_rankscore=0.204;FATHMM_pred=T;PROVEAN_score=-3.67;PROVEAN_converted_rankscore=0.702;PROVEAN_pred=D;VEST4_score=0.703;VEST4_rankscore=0.733;MetaSVM_score=-1.033;MetaSVM_rankscore=0.196;MetaSVM_pred=T;MetaLR_score=0.111;MetaLR_rankscore=0.398;MetaLR_pred=T;MetaRNN_score=0.808;MetaRNN_rankscore=0.801;MetaRNN_pred=D;M-CAP_score=0.022;M-CAP_rankscore=0.451;M-CAP_pred=T;REVEL_score=0.291;REVEL_rankscore=0.614;MutPred_score=0.715;MutPred_rankscore=0.850;MVP_score=0.332;MVP_rankscore=0.328;MPC_score=1.482;MPC_rankscore=0.867;PrimateAI_score=0.739;PrimateAI_rankscore=0.728;PrimateAI_pred=T;DEOGEN2_score=0.183;DEOGEN2_rankscore=0.535;DEOGEN2_pred=T;BayesDel_addAF_score=-0.049;BayesDel_addAF_rankscore=0.446;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.308;BayesDel_noAF_rankscore=0.439;BayesDel_noAF_pred=T;ClinPred_score=0.963;ClinPred_rankscore=0.666;ClinPred_pred=D;LIST-S2_score=0.975;LIST-S2_rankscore=0.911;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.854;CADD_raw_rankscore=0.738;CADD_phred=26.1;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.975;fathmm-MKL_coding_rankscore=0.750;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.699;fathmm-XF_coding_rankscore=0.657;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.793;Eigen-raw_coding_rankscore=0.856;Eigen-PC-raw_coding=0.767;Eigen-PC-raw_coding_rankscore=0.874;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.47;GERP++_RS=5.47;GERP++_RS_rankscore=0.803;phyloP100way_vertebrate=3.976;phyloP100way_vertebrate_rankscore=0.566;phyloP30way_mammalian=0.947;phyloP30way_mammalian_rankscore=0.344;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.997;phastCons30way_mammalian_rankscore=0.620;SiPhy_29way_logOdds=16.894;SiPhy_29way_logOdds_rankscore=0.860;Interpro_domain=Rho_GTPase-activating_protein_domain|Rho_GTPase-activating_protein_domain|Rho_GTPase-activating_protein_domain\x3bRho_GTPase-activating_protein_domain|Rho_GTPase-activating_protein_domain|Rho_GTPase-activating_protein_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs761188481;ExAC_ALL=8.578e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.555e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.036:40:6,0:18,0:25,0:18,22,0,0	0/1:43,24:0.368:67:9,5:14,7:23,13:22,21,12,12
chr1	161223043	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,42|1,1;DP=88;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=158,132;MMQ=60,60;MPOS=47;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=6.11;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=APOA2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=APOA2:NM_001643:exon3:c.G60A:p.L20L;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:37,0:0.038:37:13,0:8,0:24,0:0|1:161223043_C_T:161223043:19,18,0,0	0|1:45,2:0.068:47:12,0:10,1:26,1:0|1:161223043_C_T:161223043:21,24,1,1
chr1	161223052	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=35,37|1,1;DP=74;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=162,132;MMQ=60,60;MPOS=56;NALOD=1.34;NLOD=6.32;POPAF=6;TLOD=6.22;ANNOVAR_DATE=2020-06-08;Func.refGene=splicing;Gene.refGene=APOA2;GeneDetail.refGene=NM_001643:exon3:c.53-2A>G;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.170;BayesDel_addAF_rankscore=0.711;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.006;BayesDel_noAF_rankscore=0.707;BayesDel_noAF_pred=D;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=4.830;CADD_raw_rankscore=0.928;CADD_phred=33;DANN_score=0.990;DANN_rankscore=0.508;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.837;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=0.914;Eigen-raw_coding_rankscore=0.924;Eigen-PC-raw_coding=0.729;Eigen-PC-raw_coding_rankscore=0.846;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.054;integrated_fitCons_rankscore=0.005;integrated_confidence_value=0;LINSIGHT=0.757;LINSIGHT_rankscore=0.449;GERP++_NR=4.79;GERP++_RS=4.79;GERP++_RS_rankscore=0.609;phyloP100way_vertebrate=3.757;phyloP100way_vertebrate_rankscore=0.549;phyloP30way_mammalian=1.138;phyloP30way_mammalian_rankscore=0.647;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.979;phastCons30way_mammalian_rankscore=0.474;SiPhy_29way_logOdds=10.748;SiPhy_29way_logOdds_rankscore=0.454;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:32,0:0.043:32:10,0:4,0:21,0:0|1:161223043_C_T:161223043:17,15,0,0	0|1:40,2:0.077:42:10,0:8,1:23,1:0|1:161223043_C_T:161223043:18,22,1,1
chr1	161323702	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,31|8,8;DP=86;ECNT=1;GERMQ=16;MBQ=20,20;MFRL=166,139;MMQ=60,60;MPOS=46;NALOD=0.164;NLOD=4.23;POPAF=2.2;RPA=11,10;RU=T;STR;STRQ=4;TLOD=6.89;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SDHC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=8.635e-05;AF_raw=0.0007;AF_male=2.979e-05;AF_female=0.0001;AF_afr=7.326e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0004;AF_nfe=6.342e-05;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768040867;ExAC_ALL=0.0298;ExAC_AFR=0.0139;ExAC_AMR=0.0296;ExAC_EAS=0.0102;ExAC_FIN=0.0034;ExAC_NFE=0.0315;ExAC_OTH=0.0317;ExAC_SAS=0.0565;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,2:0.079:38:14,0:4,1:20,1:18,18,1,1	0/1:22,14:0.357:36:3,6:7,0:13,7:9,13,7,7
chr1	161406104	.	GGGGGC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,8|19,2;DP=60;ECNT=1;GERMQ=14;MBQ=36,20;MFRL=167,161;MMQ=60,60;MPOS=45;NALOD=0.755;NLOD=2.7;POPAF=6;TLOD=23.25;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=SDHC\x3bFCGR2A;GeneDetail.refGene=dist\x3d30765\x3bdist\x3d99348;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=7.269e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:10,0:0.088:10:6,0:2,0:9,0:8,2,0,0	0/1:21,21:0.53:42:9,8:5,9:16,19:15,6,19,2
chr1	161510755	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,1|2,0;DP=20;ECNT=1;GERMQ=44;MBQ=36,31;MFRL=230,225;MMQ=60,60;MPOS=29;NALOD=1.08;NLOD=3.31;POPAF=6;TLOD=4.9;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FCGR2A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.077:11:7,0:4,0:11,0:11,0,0,0	0/1:6,2:0.331:8:1,0:4,2:5,2:5,1,2,0
chr1	161710740	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,34|2,2;DP=85;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,163;MMQ=60,60;MPOS=37;NALOD=1.4;NLOD=7.22;POPAF=6;TLOD=5.73;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FCRLA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q23.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.038:37:16,0:7,0:24,0:21,16,0,0	0/1:42,4:0.107:46:11,1:13,1:24,2:24,18,2,2
chr1	162804271	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=59,55|17,19;DP=153;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,154;MMQ=60,60;MPOS=36;NALOD=1.57;NLOD=10.53;POPAF=4.61;TLOD=78.41;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HSD17B7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HSD17B7:NM_016371:exon7:c.G752A:p.R251H;cytoBand=1q23.3;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;SIFT4G_score=0.003;SIFT4G_converted_rankscore=0.765;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.494;MutationTaster_pred=D;MutationAssessor_score=2.885;MutationAssessor_rankscore=0.836;MutationAssessor_pred=M;FATHMM_score=-1.39;FATHMM_converted_rankscore=0.804;FATHMM_pred=T;PROVEAN_score=-3.93;PROVEAN_converted_rankscore=0.733;PROVEAN_pred=D;VEST4_score=0.822;VEST4_rankscore=0.818;MetaSVM_score=0.332;MetaSVM_rankscore=0.881;MetaSVM_pred=D;MetaLR_score=0.642;MetaLR_rankscore=0.875;MetaLR_pred=D;MetaRNN_score=0.880;MetaRNN_rankscore=0.873;MetaRNN_pred=D;M-CAP_score=0.081;M-CAP_rankscore=0.736;M-CAP_pred=D;REVEL_score=0.273;REVEL_rankscore=0.593;MutPred_score=0.628;MutPred_rankscore=0.764;MVP_score=0.899;MVP_rankscore=0.898;MPC_score=1.465;MPC_rankscore=0.864;PrimateAI_score=0.373;PrimateAI_rankscore=0.212;PrimateAI_pred=T;DEOGEN2_score=0.455;DEOGEN2_rankscore=0.795;DEOGEN2_pred=T;BayesDel_addAF_score=0.178;BayesDel_addAF_rankscore=0.719;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.121;BayesDel_noAF_rankscore=0.783;BayesDel_noAF_pred=D;ClinPred_score=0.965;ClinPred_rankscore=0.670;ClinPred_pred=D;LIST-S2_score=0.880;LIST-S2_rankscore=0.597;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=4.367;CADD_raw_rankscore=0.896;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.992;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.646;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.720;fathmm-XF_coding_rankscore=0.671;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.750;Eigen-raw_coding_rankscore=0.829;Eigen-PC-raw_coding=0.694;Eigen-PC-raw_coding_rankscore=0.820;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.85;GERP++_RS=4.85;GERP++_RS_rankscore=0.624;phyloP100way_vertebrate=9.245;phyloP100way_vertebrate_rankscore=0.946;phyloP30way_mammalian=1.155;phyloP30way_mammalian_rankscore=0.708;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.992;phastCons30way_mammalian_rankscore=0.541;SiPhy_29way_logOdds=16.707;SiPhy_29way_logOdds_rankscore=0.852;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs756882481;ExAC_ALL=1.663e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.511e-05;ExAC_OTH=0;ExAC_SAS=6.083e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:54,0:0.026:54:19,0:11,0:35,0:29,25,0,0	0/1:60,36:0.376:96:13,11:17,6:34,20:30,30,17,19
chr1	165582044	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,38|17,13;DP=113;ECNT=1;GERMQ=80;MBQ=20,20;MFRL=152,140;MMQ=60,60;MPOS=48;NALOD=1.36;NLOD=6.62;POPAF=6;TLOD=66.81;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_exonic;Gene.refGene=LRRC52-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.042:33:9,0:13,0:22,0:20,13,0,0	0/1:47,30:0.404:77:16,10:10,8:27,18:22,25,17,13
chr1	165665120	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,56|11,14;DP=132;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=166,154;MMQ=60,60;MPOS=46;NALOD=1.55;NLOD=10.23;POPAF=4.61;TLOD=54.44;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ALDH9A1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ALDH9A1:NM_000696:exon10:c.C1360T:p.R454W,ALDH9A1:NM_001365774:exon10:c.C1078T:p.R360W;cytoBand=1q24.1;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.999;Polyphen2_HVAR_rankscore=0.924;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-1.24;FATHMM_converted_rankscore=0.790;FATHMM_pred=T;PROVEAN_score=-7.32;PROVEAN_converted_rankscore=0.945;PROVEAN_pred=D;VEST4_score=0.712;VEST4_rankscore=0.715;MetaSVM_score=0.176;MetaSVM_rankscore=0.855;MetaSVM_pred=D;MetaLR_score=0.587;MetaLR_rankscore=0.852;MetaLR_pred=D;MetaRNN_score=0.935;MetaRNN_rankscore=0.928;MetaRNN_pred=D;M-CAP_score=0.225;M-CAP_rankscore=0.880;M-CAP_pred=D;REVEL_score=0.767;REVEL_rankscore=0.922;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.923;MVP_rankscore=0.922;MPC_score=0.637;MPC_rankscore=0.574;PrimateAI_score=0.668;PrimateAI_rankscore=0.626;PrimateAI_pred=T;DEOGEN2_score=0.565;DEOGEN2_rankscore=0.855;DEOGEN2_pred=D;BayesDel_addAF_score=0.169;BayesDel_addAF_rankscore=0.710;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.174;BayesDel_noAF_rankscore=0.817;BayesDel_noAF_pred=D;ClinPred_score=0.995;ClinPred_rankscore=0.860;ClinPred_pred=D;LIST-S2_score=0.994;LIST-S2_rankscore=0.979;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.961;CADD_raw_rankscore=0.773;CADD_phred=26.7;DANN_score=0.999;DANN_rankscore=0.978;fathmm-MKL_coding_score=0.913;fathmm-MKL_coding_rankscore=0.532;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.806;fathmm-XF_coding_rankscore=0.730;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.524;Eigen-raw_coding_rankscore=0.685;Eigen-PC-raw_coding=0.376;Eigen-PC-raw_coding_rankscore=0.601;GenoCanyon_score=0.874;GenoCanyon_rankscore=0.255;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.75;GERP++_RS=1.49;GERP++_RS_rankscore=0.220;phyloP100way_vertebrate=1.160;phyloP100way_vertebrate_rankscore=0.314;phyloP30way_mammalian=-0.227;phyloP30way_mammalian_rankscore=0.090;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.604;phastCons30way_mammalian_rankscore=0.290;SiPhy_29way_logOdds=8.959;SiPhy_29way_logOdds_rankscore=0.350;Interpro_domain=Aldehyde_dehydrogenase_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.996e-06;AF_raw=6.979e-06;AF_male=0;AF_female=1.357e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:59,0:0.027:59:14,0:14,0:34,0:28,31,0,0	0/1:47,25:0.366:72:10,5:12,7:25,14:22,25,11,14
chr1	168050957	.	ATT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,38|16,17;DP=111;ECNT=1;GERMQ=58;MBQ=20,20;MFRL=156,159;MMQ=60,60;MPOS=31;NALOD=0.819;NLOD=6.34;POPAF=6;RPA=10,8;RU=T;STR;STRQ=93;TLOD=36.86;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DCAF6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.042:34:4,0:10,0:21,0:14,20,0,0	0/1:34,33:0.499:67:7,8:8,8:18,18:16,18,16,17
chr1	168183863	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,21|4,3;DP=68;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=194,136;MMQ=60,60;MPOS=16;NALOD=1.34;NLOD=6.31;POPAF=6;TLOD=14.97;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TIPRL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.095e-05;AF_raw=2.093e-05;AF_male=2.881e-05;AF_female=1.355e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.648e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs949462463;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.043:27:14,0:7,0:21,0:21,6,0,0	0/1:34,7:0.193:41:13,3:7,1:20,4:19,15,4,3
chr1	168196529	.	CTTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,16|18,16;DP=74;ECNT=1;GERMQ=87;MBQ=20,20;MFRL=174,158;MMQ=60,60;MPOS=30;NALOD=0.811;NLOD=4.87;POPAF=6;RPA=13,10;RU=T;STR;STRQ=93;TLOD=26.35;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TIPRL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=7.101e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs776360750;ExAC_ALL=0.0007;ExAC_AFR=0.0017;ExAC_AMR=0.0014;ExAC_EAS=0.0010;ExAC_FIN=0.0003;ExAC_NFE=0.0006;ExAC_OTH=0.0013;ExAC_SAS=0.0004;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,2:0.071:34:9,0:9,0:21,1:18,14,1,1	0/1:4,32:0.874:36:0,9:2,9:2,19:2,2,17,15
chr1	168542116	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,25|8,9;DP=72;ECNT=1;GERMQ=28;MBQ=20,20;MFRL=175,160;MMQ=60,60;MPOS=40;NALOD=1.2;NLOD=4.18;POPAF=3.91;RPA=9,8;RU=A;STR;STRQ=21;TLOD=11.84;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=XCL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=3.648e-05;AF_raw=4.954e-05;AF_male=6.068e-05;AF_female=1.406e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746563888;ExAC_ALL=0.0003;ExAC_AFR=0.0006;ExAC_AMR=0;ExAC_EAS=0.0012;ExAC_FIN=0;ExAC_NFE=0.0004;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.06:21:3,0:8,0:14,0:7,14,0,0	0/1:21,17:0.449:38:5,4:5,4:11,9:10,11,8,9
chr1	169468849	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,34|11,14;DP=103;ECNT=1;GERMQ=41;MBQ=20,20;MFRL=175,174;MMQ=60,60;MPOS=41;NALOD=-0.3459;NLOD=3.52;POPAF=6;RPA=8,7;RU=A;STR;STRQ=49;TLOD=18.6;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SLC19A2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,1:0.082:31:6,0:8,0:21,1:12,18,0,1	0/1:29,24:0.448:53:7,7:7,6:16,13:13,16,11,13
chr1	169609778	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,16|1,2;DP=28;ECNT=1;GERMQ=47;MBQ=33,20;MFRL=235,155;MMQ=60,60;MPOS=10;NALOD=1.08;NLOD=3.31;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=4.99;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SELP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.077:13:6,0:2,0:11,0:2,11,0,0	0/1:8,3:0.333:11:2,1:3,0:5,2:3,5,1,2
chr1	169616982	.	GTT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,4|8,6;DP=42;ECNT=1;GERMQ=36;MBQ=34,20;MFRL=200,174;MMQ=60,60;MPOS=27;NALOD=0.874;NLOD=3.35;POPAF=6;RPA=12,10;RU=T;STR;STRQ=93;TLOD=12.28;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SELP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.444e-06;AF_raw=4.31e-05;AF_male=1.546e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.627e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746205276;ExAC_ALL=0.0005;ExAC_AFR=0.0003;ExAC_AMR=0.0004;ExAC_EAS=0.0007;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0008;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.072:13:3,0:8,0:11,0:11,2,0,0	0/1:5,14:0.691:19:1,6:2,2:3,8:3,2,8,6
chr1	169798915	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,19|6,5;DP=57;ECNT=2;GERMQ=55;MBQ=20,20;MFRL=187,159;MMQ=60,60;MPOS=58;NALOD=1.23;NLOD=4.52;POPAF=6;TLOD=23.09;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=C1orf112;GeneDetail.refGene=NM_001320051:c.-1991C>T\x3bNM_001320047:c.-1991C>T;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.056:24:8,0:6,0:15,0:14,10,0,0	0/1:18,11:0.411:29:5,4:3,2:9,6:9,9,6,5
chr1	169827926	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=1,15|2,5;DP=31;ECNT=1;GERMQ=12;MBQ=38,20;MFRL=204,160;MMQ=60,60;MPOS=15;NALOD=1.15;NLOD=3.59;POPAF=2.87;RPA=10,9;RU=T;STR;STRQ=3;TLOD=9.96;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=C1orf112;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.175e-05;AF_raw=0.0002;AF_male=0.0001;AF_female=4.164e-05;AF_afr=9.764e-05;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=3.157e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.067:13:3,0:0,0:12,0:1,12,0,0	0/1:3,7:0.602:10:1,0:0,2:3,5:0,3,2,5
chr1	169978005	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,8|8,6;DP=43;ECNT=1;GERMQ=9;MBQ=20,20;MFRL=208,149;MMQ=60,60;MPOS=17;NALOD=0.708;NLOD=3.39;POPAF=2.95;RPA=11,10;RU=A;STR;STRQ=25;TLOD=11.06;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIFAP3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.451e-05;AF_raw=0.0002;AF_male=1.507e-05;AF_female=1.398e-05;AF_afr=2.454e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.071:15:6,0:6,0:12,0:12,3,0,0	0/1:11,14:0.56:25:0,5:6,3:6,8:6,5,8,6
chr1	170958433	COSV63010709	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,29|8,7;DP=82;ECNT=2;GERMQ=40;MBQ=20,20;MFRL=169,144;MMQ=60,60;MPOS=22;NALOD=0.421;NLOD=4.66;POPAF=3.19;TLOD=5.51;AA=p.?,p.?;CDS=c.73-28T>C,c.73-28T>C;CNT=4,4;GENE=MROH9,MROH9_ENST00000367758;HGVSC=ENST00000367759.8:c.73-28T>C,ENST00000367758.7:c.73-28T>C;HGVSG=1:g.170958433T>C,1:g.170958433T>C;LEGACY_ID=COSN7184134,COSN7184134;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=MROH9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.405e-05;AF_raw=6.289e-05;AF_male=2.901e-05;AF_female=0;AF_afr=2.391e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs748446017;ExAC_ALL=0.0015;ExAC_AFR=0.0002;ExAC_AMR=0.0005;ExAC_EAS=0.0023;ExAC_FIN=0.0002;ExAC_NFE=0.0010;ExAC_OTH=0.0025;ExAC_SAS=0.0052;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,1:0.076:34:10,0:10,1:21,1:20,13,1,0	0/1:32,14:0.335:46:9,2:6,4:16,9:16,16,7,7
chr1	171324163	COSV104675272	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,63|18,14;DP=183;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,173;MMQ=60,60;MPOS=30;NALOD=1.66;NLOD=13.49;POPAF=4.61;TLOD=68.99;AA=p.R116H;CDS=c.347G>A;CNT=1;GENE=FMO4;HGVSC=ENST00000367749.3:c.347G>A;HGVSG=1:g.171324163G>A;HGVSP=ENSP00000356723.3:p.Arg116His;LEGACY_ID=COSM9381411;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FMO4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FMO4:NM_002022:exon5:c.G347A:p.R116H;cytoBand=1q24.3;SIFT_score=0.313;SIFT_converted_rankscore=0.139;SIFT_pred=T;SIFT4G_score=0.313;SIFT4G_converted_rankscore=0.195;SIFT4G_pred=T;Polyphen2_HDIV_score=0.146;Polyphen2_HDIV_rankscore=0.278;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.046;Polyphen2_HVAR_rankscore=0.247;Polyphen2_HVAR_pred=B;LRT_score=0.004;LRT_converted_rankscore=0.342;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.11;MutationAssessor_rankscore=0.286;MutationAssessor_pred=L;FATHMM_score=0.36;FATHMM_converted_rankscore=0.579;FATHMM_pred=T;PROVEAN_score=-0.61;PROVEAN_converted_rankscore=0.180;PROVEAN_pred=N;VEST4_score=0.089;VEST4_rankscore=0.067;MetaSVM_score=-1.015;MetaSVM_rankscore=0.253;MetaSVM_pred=T;MetaLR_score=0.059;MetaLR_rankscore=0.248;MetaLR_pred=T;MetaRNN_score=0.053;MetaRNN_rankscore=0.055;MetaRNN_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.294;M-CAP_pred=T;REVEL_score=0.065;REVEL_rankscore=0.193;MutPred_score=0.469;MutPred_rankscore=0.542;MVP_score=0.538;MVP_rankscore=0.535;MPC_score=0.103;MPC_rankscore=0.116;PrimateAI_score=0.204;PrimateAI_rankscore=0.006;PrimateAI_pred=T;DEOGEN2_score=0.013;DEOGEN2_rankscore=0.115;DEOGEN2_pred=T;BayesDel_addAF_score=-0.446;BayesDel_addAF_rankscore=0.012;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.586;BayesDel_noAF_rankscore=0.140;BayesDel_noAF_pred=T;ClinPred_score=0.013;ClinPred_rankscore=0.002;ClinPred_pred=T;LIST-S2_score=0.626;LIST-S2_rankscore=0.242;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=-0.117;CADD_raw_rankscore=0.034;CADD_phred=0.765;DANN_score=0.920;DANN_rankscore=0.213;fathmm-MKL_coding_score=0.096;fathmm-MKL_coding_rankscore=0.153;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.101;fathmm-XF_coding_rankscore=0.204;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.906;Eigen-raw_coding_rankscore=0.107;Eigen-PC-raw_coding=-0.951;Eigen-PC-raw_coding_rankscore=0.109;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.029;integrated_fitCons_score=0.638;integrated_fitCons_rankscore=0.432;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.69;GERP++_RS=0.673;GERP++_RS_rankscore=0.171;phyloP100way_vertebrate=-0.509;phyloP100way_vertebrate_rankscore=0.064;phyloP30way_mammalian=-0.533;phyloP30way_mammalian_rankscore=0.053;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.020;phastCons30way_mammalian_rankscore=0.141;SiPhy_29way_logOdds=10.402;SiPhy_29way_logOdds_rankscore=0.434;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.187e-05;AF_raw=4.185e-05;AF_male=1.44e-05;AF_female=6.77e-05;AF_afr=4.756e-05;AF_ami=0;AF_amr=7.32e-05;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=3.097e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs762403469;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.286e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.021:73:19,0:21,0:45,0:41,32,0,0	0/1:67,32:0.339:99:13,11:22,7:38,19:36,31,18,14
chr1	171514523	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,36|24,22;DP=126;ECNT=1;GERMQ=50;MBQ=20,20;MFRL=185,159;MMQ=60,60;MPOS=35;NALOD=-0.6618;NLOD=7.33;POPAF=2.23;RPA=9,8;RU=T;STR;STRQ=93;TLOD=41.14;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PRRC2C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q24.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0068;AF_raw=0.0069;AF_male=0.0060;AF_female=0.0076;AF_afr=0.0129;AF_ami=0;AF_amr=0.0041;AF_asj=0;AF_eas=0;AF_fin=0.0005;AF_nfe=0.0055;AF_oth=0.0061;AF_sas=0.0003;ALL.sites.2015_08=0.00559105;AFR.sites.2015_08=0.0159;ALL.sites.2015_08=0.00559105;EUR.sites.2015_08=0.005;AMR.sites.2015_08=0.0014;EUR.sites.2015_08=0.005;EAS.sites.2015_08=.;SAS.sites.2015_08=0.001;avsnp150=rs200071125;ExAC_ALL=0.0076;ExAC_AFR=0.0157;ExAC_AMR=0.0046;ExAC_EAS=0.0015;ExAC_FIN=0.0006;ExAC_NFE=0.0086;ExAC_OTH=0;ExAC_SAS=0.0059;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:58,3:0.066:61:12,1:18,0:40,2:31,27,1,2	0/1:22,43:0.627:65:6,15:6,8:14,24:13,9,23,20
chr1	173603258	.	ATTTTT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=8,13|1,3;DP=31;ECNT=1;GERMQ=24;MBQ=20,20;MFRL=162,183;MMQ=60,60;MPOS=27;NALOD=0.512;NLOD=2.69;POPAF=6;RPA=14,9;RU=T;STR;STRQ=93;TLOD=7.7;ANNOVAR_DATE=2020-06-08;Func.refGene=upstream;Gene.refGene=SLC9C2;GeneDetail.refGene=dist\x3d187;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.091:11:1,0:2,0:9,0:3,8,0,0	0/1:10,4:0.397:14:0,1:4,2:5,3:5,5,1,3
chr1	173993078	.	CTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=1,10|0,3;DP=20;ECNT=1;GERMQ=24;MBQ=35,20;MFRL=250,212;MMQ=60,60;MPOS=65;NALOD=0.73;NLOD=2.4;POPAF=6;RPA=12,10;RU=T;STR;STRQ=93;TLOD=6.22;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=RC3H1;GeneDetail.refGene=NM_172071:c.-94_-95delAA;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=1.427e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:9,0:0.094:9:3,0:2,0:8,0:1,8,0,0	0/1:2,3:0.572:5:0,1:0,1:2,3:0,2,0,3
chr1	174800403	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=93,85|28,26;DP=238;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=155,157;MMQ=60,60;MPOS=37;NALOD=1.75;NLOD=16.55;POPAF=6;TLOD=117.53;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RABGAP1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RABGAP1L:NM_001243765:exon1:c.T71C:p.M24T,RABGAP1L:NM_001366455:exon1:c.T71C:p.M24T,RABGAP1L:NM_001366456:exon1:c.T71C:p.M24T;cytoBand=1q25.1;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.012;SIFT4G_converted_rankscore=0.639;SIFT4G_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.044;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=-0.95;PROVEAN_converted_rankscore=0.253;PROVEAN_pred=N;VEST4_score=0.624;VEST4_rankscore=0.639;MetaSVM_score=-0.833;MetaSVM_rankscore=0.531;MetaSVM_pred=T;MetaLR_score=0.181;MetaLR_rankscore=0.529;MetaLR_pred=T;MetaRNN_score=0.297;MetaRNN_rankscore=0.473;MetaRNN_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.424;M-CAP_pred=T;REVEL_score=0.061;REVEL_rankscore=0.180;MutPred_score=0.191;MutPred_rankscore=0.102;MVP_score=0.508;MVP_rankscore=0.504;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.002;BayesDel_addAF_rankscore=0.514;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.240;BayesDel_noAF_rankscore=0.508;BayesDel_noAF_pred=T;ClinPred_score=0.986;ClinPred_rankscore=0.765;ClinPred_pred=D;LIST-S2_score=0.421;LIST-S2_rankscore=0.112;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=2.256;CADD_raw_rankscore=0.359;CADD_phred=21.3;DANN_score=0.977;DANN_rankscore=0.352;fathmm-MKL_coding_score=0.438;fathmm-MKL_coding_rankscore=0.272;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.246;fathmm-XF_coding_rankscore=0.366;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.026;Eigen-raw_coding_rankscore=0.430;Eigen-PC-raw_coding=0.201;Eigen-PC-raw_coding_rankscore=0.499;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.405;integrated_fitCons_rankscore=0.063;integrated_confidence_value=1;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.65;GERP++_RS=5.65;GERP++_RS_rankscore=0.869;phyloP100way_vertebrate=3.218;phyloP100way_vertebrate_rankscore=0.509;phyloP30way_mammalian=1.138;phyloP30way_mammalian_rankscore=0.647;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=10.254;SiPhy_29way_logOdds_rankscore=0.426;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:89,0:0.017:89:28,0:22,0:55,0:48,41,0,0	0/1:89,54:0.41:143:24,12:21,15:45,31:45,44,28,26
chr1	174978945	.	ATTT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=14,22|4,6;DP=61;ECNT=1;GERMQ=42;MBQ=20,20;MFRL=163,154;MMQ=60,60;MPOS=31;NALOD=0.617;NLOD=4.46;POPAF=6;RPA=13,10;RU=T;STR;STRQ=93;TLOD=5.81;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RABGAP1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.057:23:8,0:3,0:15,0:9,14,0,0	0/1:13,10:0.426:23:3,4:3,1:8,6:5,8,4,6
chr1	175014705	COSV100871582	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=60,55|13,11;DP=143;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,146;MMQ=60,60;MPOS=33;NALOD=1.55;NLOD=10.23;POPAF=2.12;TLOD=52.7;AA=p.H117%3D;CDS=c.351T>C;CNT=2;GENE=MRPS14;HGVSC=ENST00000476371.1:c.351T>C;HGVSG=1:g.175014705A>G;HGVSP=ENSP00000420714.1:p.His117%3D;LEGACY_ID=COSM9167412;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MRPS14;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MRPS14:NM_022100:exon3:c.T351C:p.H117H;cytoBand=1q25.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0070;AF_raw=0.0070;AF_male=0.0076;AF_female=0.0064;AF_afr=0.0016;AF_ami=0.0011;AF_amr=0.0040;AF_asj=0.0108;AF_eas=0;AF_fin=0.0273;AF_nfe=0.0081;AF_oth=0.0037;AF_sas=0.0079;ALL.sites.2015_08=0.00459265;AFR.sites.2015_08=.;ALL.sites.2015_08=0.00459265;EUR.sites.2015_08=0.008;AMR.sites.2015_08=0.0014;EUR.sites.2015_08=0.008;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0143;avsnp150=rs36081614;ExAC_ALL=0.0071;ExAC_AFR=0.0021;ExAC_AMR=0.0036;ExAC_EAS=0;ExAC_FIN=0.0256;ExAC_NFE=0.0074;ExAC_OTH=0.0066;ExAC_SAS=0.0080;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:59,0:0.027:59:17,0:15,0:34,0:31,28,0,0	0/1:56,24:0.32:80:11,7:18,5:33,15:29,27,13,11
chr1	175118547	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,21|18,15;DP=92;ECNT=1;GERMQ=67;MBQ=20,20;MFRL=179,153;MMQ=60,60;MPOS=47;NALOD=1.47;NLOD=8.23;POPAF=2.85;RPA=10,9;RU=T;STR;STRQ=93;TLOD=34.36;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TNN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0012;AF_raw=0.0012;AF_male=0.0010;AF_female=0.0014;AF_afr=0.0037;AF_ami=0;AF_amr=0.0004;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=9.343e-05;AF_oth=0.0024;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs780116842;ExAC_ALL=0.0040;ExAC_AFR=0.0053;ExAC_AMR=0.0013;ExAC_EAS=0.0039;ExAC_FIN=0.0005;ExAC_NFE=0.0047;ExAC_OTH=0.0013;ExAC_SAS=0.0037;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.033:40:6,0:20,0:28,0:24,16,0,0	0/1:14,33:0.676:47:6,9:2,9:9,19:9,5,18,15
chr1	176136574	.	CAA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=5,9|14,14;DP=65;ECNT=1;GERMQ=32;MBQ=20,20;MFRL=220,130;MMQ=60,60;MPOS=46;NALOD=0.651;NLOD=3.33;POPAF=2.68;RPA=12,10;RU=A;STR;STRQ=93;TLOD=27.14;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.942e-05;AF_raw=0.0004;AF_male=2.069e-05;AF_female=3.728e-05;AF_afr=3.443e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0004;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766261894;ExAC_ALL=0.0127;ExAC_AFR=0.0103;ExAC_AMR=0.0212;ExAC_EAS=0.0106;ExAC_FIN=0.0064;ExAC_NFE=0.0119;ExAC_OTH=0.0056;ExAC_SAS=0.0139;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.071:12:3,0:3,0:11,0:4,8,0,0	0/1:2,28:0.902:30:0,7:1,8:1,16:1,1,14,14
chr1	176176023	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,36|9,12;DP=97;ECNT=1;GERMQ=45;MBQ=20,20;MFRL=169,177;MMQ=60,60;MPOS=26;NALOD=1.38;NLOD=6.56;POPAF=3.13;RPA=8,7;RU=A;STR;STRQ=33;TLOD=18.41;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0008;AF_raw=0.0008;AF_male=0.0008;AF_female=0.0009;AF_afr=0.0023;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0.0003;AF_fin=9.944e-05;AF_nfe=0.0002;AF_oth=0.0014;AF_sas=0;ALL.sites.2015_08=0.00179712;AFR.sites.2015_08=0.0061;ALL.sites.2015_08=0.00179712;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=0.001;SAS.sites.2015_08=.;avsnp150=rs528629450;ExAC_ALL=0.0008;ExAC_AFR=0.0030;ExAC_AMR=0.0004;ExAC_EAS=0.0010;ExAC_FIN=0.0002;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0.0007;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.041:35:6,0:9,0:22,0:14,21,0,0	0/1:28,21:0.418:49:6,6:8,3:17,12:13,15,9,12
chr1	176690176	COSV62785368	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=52,47|16,13;DP=131;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=175,158;MMQ=60,60;MPOS=24;NALOD=1.53;NLOD=9.93;POPAF=6;TLOD=66.34;AA=p.G726V,p.G726V;CDS=c.2177G>T,c.2177G>T;CNT=1,1;GENE=PAPPA2_ENST00000367661,PAPPA2;HGVSC=ENST00000367661.7:c.2177G>T,ENST00000367662.4:c.2177G>T;HGVSG=1:g.176690176G>T,1:g.176690176G>T;HGVSP=ENSP00000356633.3:p.Gly726Val,ENSP00000356634.3:p.Gly726Val;LEGACY_ID=COSM347941,COSM347941;STRAND=+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PAPPA2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PAPPA2:NM_020318:exon5:c.G2177T:p.G726V,PAPPA2:NM_021936:exon5:c.G2177T:p.G726V;cytoBand=1q25.2;SIFT_score=0.002;SIFT_converted_rankscore=0.722;SIFT_pred=D;SIFT4G_score=0.006;SIFT4G_converted_rankscore=0.765;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.863;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.465;MutationAssessor_rankscore=0.924;MutationAssessor_pred=M;FATHMM_score=1.21;FATHMM_converted_rankscore=0.799;FATHMM_pred=T;PROVEAN_score=-6.79;PROVEAN_converted_rankscore=0.929;PROVEAN_pred=D;VEST4_score=0.822;VEST4_rankscore=0.852;MetaSVM_score=0.670;MetaSVM_rankscore=0.928;MetaSVM_pred=D;MetaLR_score=0.742;MetaLR_rankscore=0.912;MetaLR_pred=D;MetaRNN_score=0.858;MetaRNN_rankscore=0.850;MetaRNN_pred=D;M-CAP_score=0.091;M-CAP_rankscore=0.757;M-CAP_pred=D;REVEL_score=0.651;REVEL_rankscore=0.870;MutPred_score=0.494;MutPred_rankscore=0.582;MVP_score=0.927;MVP_rankscore=0.926;MPC_score=0.795;MPC_rankscore=0.660;PrimateAI_score=0.620;PrimateAI_rankscore=0.557;PrimateAI_pred=T;DEOGEN2_score=0.668;DEOGEN2_rankscore=0.901;DEOGEN2_pred=D;BayesDel_addAF_score=0.414;BayesDel_addAF_rankscore=0.907;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.357;BayesDel_noAF_rankscore=0.906;BayesDel_noAF_pred=D;ClinPred_score=0.996;ClinPred_rankscore=0.879;ClinPred_pred=D;LIST-S2_score=0.982;LIST-S2_rankscore=0.938;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.726;CADD_raw_rankscore=0.701;CADD_phred=25.5;DANN_score=0.997;DANN_rankscore=0.832;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.948;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.938;fathmm-XF_coding_rankscore=0.937;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.838;Eigen-raw_coding_rankscore=0.884;Eigen-PC-raw_coding=0.731;Eigen-PC-raw_coding_rankscore=0.848;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.33;GERP++_RS=5.33;GERP++_RS_rankscore=0.757;phyloP100way_vertebrate=9.861;phyloP100way_vertebrate_rankscore=0.984;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.883;phastCons30way_mammalian_rankscore=0.367;SiPhy_29way_logOdds=18.626;SiPhy_29way_logOdds_rankscore=0.913;Interpro_domain=.\x3bPeptidase_M43,_pregnancy-associated_plasma-A|Peptidase_M43,_pregnancy-associated_plasma-A;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.029:53:20,0:13,0:33,0:29,24,0,0	0/1:46,29:0.415:75:10,5:14,12:26,18:23,23,16,13
chr1	178141969	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,14|2,2;DP=36;ECNT=1;GERMQ=54;MBQ=20,20;MFRL=173,96;MMQ=60,60;MPOS=9;NALOD=1.09;NLOD=3.31;POPAF=6;TLOD=6.86;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RASAL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.075:15:4,0:6,0:11,0:8,7,0,0	0/1:16,4:0.231:20:3,0:6,2:9,2:9,7,2,2
chr1	178445535	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,53|2,2;DP=122;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,180;MMQ=60,60;MPOS=29;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=9.45;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RASAL2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RASAL2:NM_004841:exon7:c.G1056T:p.L352F,RASAL2:NM_170692:exon9:c.G1500T:p.L500F;cytoBand=1q25.2;SIFT_score=0.002;SIFT_converted_rankscore=0.722;SIFT_pred=D;SIFT4G_score=0.008;SIFT4G_converted_rankscore=0.679;SIFT4G_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_rankscore=0.581;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.961;Polyphen2_HVAR_rankscore=0.705;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.505;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.07;MutationAssessor_rankscore=0.871;MutationAssessor_pred=M;FATHMM_score=-1.82;FATHMM_converted_rankscore=0.840;FATHMM_pred=D;PROVEAN_score=-3.08;PROVEAN_converted_rankscore=0.633;PROVEAN_pred=D;VEST4_score=0.838;VEST4_rankscore=0.834;MetaSVM_score=0.697;MetaSVM_rankscore=0.931;MetaSVM_pred=D;MetaLR_score=0.766;MetaLR_rankscore=0.920;MetaLR_pred=D;MetaRNN_score=0.899;MetaRNN_rankscore=0.893;MetaRNN_pred=D;M-CAP_score=0.199;M-CAP_rankscore=0.866;M-CAP_pred=D;REVEL_score=0.788;REVEL_rankscore=0.931;MutPred_score=0.741;MutPred_rankscore=0.873;MVP_score=0.823;MVP_rankscore=0.821;MPC_score=0.792;MPC_rankscore=0.659;PrimateAI_score=0.772;PrimateAI_rankscore=0.778;PrimateAI_pred=T;DEOGEN2_score=0.634;DEOGEN2_rankscore=0.887;DEOGEN2_pred=D;BayesDel_addAF_score=0.354;BayesDel_addAF_rankscore=0.868;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.270;BayesDel_noAF_rankscore=0.866;BayesDel_noAF_pred=D;ClinPred_score=0.992;ClinPred_rankscore=0.822;ClinPred_pred=D;LIST-S2_score=0.963;LIST-S2_rankscore=0.863;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.542;CADD_raw_rankscore=0.652;CADD_phred=24.8;DANN_score=0.999;DANN_rankscore=0.948;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.739;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.714;fathmm-XF_coding_rankscore=0.667;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.636;Eigen-raw_coding_rankscore=0.754;Eigen-PC-raw_coding=0.579;Eigen-PC-raw_coding_rankscore=0.734;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.501;integrated_fitCons_score=0.745;integrated_fitCons_rankscore=0.986;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.28;GERP++_RS=4.35;GERP++_RS_rankscore=0.515;phyloP100way_vertebrate=4.883;phyloP100way_vertebrate_rankscore=0.628;phyloP30way_mammalian=1.083;phyloP30way_mammalian_rankscore=0.538;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=14.276;SiPhy_29way_logOdds_rankscore=0.657;Interpro_domain=.\x3bRas_GTPase-activating_domain|Ras_GTPase-activating_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.03:50:16,0:13,0:31,0:27,23,0,0	0/1:64,4:0.078:68:17,0:17,2:34,2:34,30,2,2
chr1	178482452	.	GTTC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,29|1,1;DP=56;ECNT=2;GERMQ=92;MBQ=20,20;MFRL=177,177;MMQ=60,60;MPOS=23;NALOD=1.06;NLOD=3;POPAF=6;TLOD=6.35;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=RASAL2\x3bTEX35;GeneDetail.refGene=dist\x3d3603\x3bdist\x3d30654;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:10,0:0.081:10:1,0:1,0:10,0:0|1:178482452_GTTC_G:178482452:0,10,0,0	0|1:34,2:0.089:36:8,1:8,0:19,1:0|1:178482452_GTTC_G:178482452:15,19,1,1
chr1	178482463	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,25|1,1;DP=40;ECNT=2;GERMQ=87;MBQ=20,31;MFRL=180,177;MMQ=60,60;MPOS=15;NALOD=1;NLOD=2.71;POPAF=6;TLOD=6.51;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=RASAL2\x3bTEX35;GeneDetail.refGene=dist\x3d3614\x3bdist\x3d30645;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:9,0:0.091:9:1,0:1,0:9,0:0|1:178482452_GTTC_G:178482452:0,9,0,0	0|1:29,2:0.105:31:6,1:7,0:16,1:0|1:178482452_GTTC_G:178482452:13,16,1,1
chr1	178865202	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=74,67|23,21;DP=203;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=175,146;MMQ=60,60;MPOS=27;NALOD=1.72;NLOD=14.75;POPAF=6;TLOD=91.86;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ANGPTL1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANGPTL1:NM_001376763:exon2:c.T575C:p.M192T,ANGPTL1:NM_004673:exon3:c.T575C:p.M192T;cytoBand=1q25.2;SIFT_score=0.164;SIFT_converted_rankscore=0.234;SIFT_pred=T;SIFT4G_score=0.19;SIFT4G_converted_rankscore=0.285;SIFT4G_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.417;LRT_pred=N;MutationTaster_score=0.991;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=N;MutationAssessor_score=-1.1;MutationAssessor_rankscore=0.010;MutationAssessor_pred=N;FATHMM_score=0.66;FATHMM_converted_rankscore=0.524;FATHMM_pred=T;PROVEAN_score=-0.54;PROVEAN_converted_rankscore=0.166;PROVEAN_pred=N;VEST4_score=0.165;VEST4_rankscore=0.174;MetaSVM_score=-1.028;MetaSVM_rankscore=0.210;MetaSVM_pred=T;MetaLR_score=0.060;MetaLR_rankscore=0.252;MetaLR_pred=T;MetaRNN_score=0.070;MetaRNN_rankscore=0.102;MetaRNN_pred=T;M-CAP_score=0.003;M-CAP_rankscore=0.077;M-CAP_pred=T;REVEL_score=0.042;REVEL_rankscore=0.115;MutPred_score=0.363;MutPred_rankscore=0.369;MVP_score=0.398;MVP_rankscore=0.394;MPC_score=0.093;MPC_rankscore=0.104;PrimateAI_score=0.523;PrimateAI_rankscore=0.420;PrimateAI_pred=T;DEOGEN2_score=0.081;DEOGEN2_rankscore=0.364;DEOGEN2_pred=T;BayesDel_addAF_score=-0.253;BayesDel_addAF_rankscore=0.137;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.602;BayesDel_noAF_rankscore=0.127;BayesDel_noAF_pred=T;ClinPred_score=0.322;ClinPred_rankscore=0.259;ClinPred_pred=T;LIST-S2_score=0.619;LIST-S2_rankscore=0.237;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=1.497;CADD_raw_rankscore=0.218;CADD_phred=15.72;DANN_score=0.886;DANN_rankscore=0.181;fathmm-MKL_coding_score=0.871;fathmm-MKL_coding_rankscore=0.465;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.334;fathmm-XF_coding_rankscore=0.433;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.528;Eigen-raw_coding_rankscore=0.212;Eigen-PC-raw_coding=-0.355;Eigen-PC-raw_coding_rankscore=0.264;GenoCanyon_score=0.969;GenoCanyon_rankscore=0.291;integrated_fitCons_score=0.554;integrated_fitCons_rankscore=0.289;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.32;GERP++_RS=1.23;GERP++_RS_rankscore=0.204;phyloP100way_vertebrate=2.668;phyloP100way_vertebrate_rankscore=0.465;phyloP30way_mammalian=0.324;phyloP30way_mammalian_rankscore=0.288;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.427;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=9.173;SiPhy_29way_logOdds_rankscore=0.363;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:81,0:0.019:81:23,0:26,0:49,0:43,38,0,0	0/1:60,44:0.41:104:12,8:21,15:35,24:31,29,23,21
chr1	179229655	COSV62666529	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,27|3,1;DP=52;ECNT=1;GERMQ=51;MBQ=20,20;MFRL=138,120;MMQ=60,60;MPOS=36;NALOD=1.03;NLOD=5.71;POPAF=3.02;TLOD=7.39;AA=p.?;CDS=c.-258T>C;CNT=3;GENE=ABL2_ENST00000392043;HGVSC=ENST00000392043.3:c.-258T>C;HGVSG=1:g.179229655A>G;LEGACY_ID=COSN6401768;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=ABL2;GeneDetail.refGene=NM_001168238:c.-258T>C\x3bNM_001168237:c.-258T>C\x3bNM_001168236:c.-258T>C\x3bNM_007314:c.-258T>C\x3bNM_001136001:c.-258T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0010;AF_raw=0.0011;AF_male=0.0008;AF_female=0.0012;AF_afr=0.0021;AF_ami=0;AF_amr=0.0005;AF_asj=0.0004;AF_eas=0.0029;AF_fin=0;AF_nfe=0.0004;AF_oth=0;AF_sas=0.0023;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs866580666;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:25,0:0.047:25:7,0:10,0:19,0:8,17,0,0	0/1:18,4:0.25:22:4,1:5,1:11,3:8,10,3,1
chr1	179559733	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,47|11,12;DP=117;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=151,130;MMQ=60,60;MPOS=38;NALOD=1.48;NLOD=8.73;POPAF=6;TLOD=47.89;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NPHS2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NPHS2:NM_001297575:exon4:c.T480C:p.D160D,NPHS2:NM_014625:exon4:c.T480C:p.D160D;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.032:47:12,0:15,0:29,0:22,25,0,0	0/1:44,23:0.342:67:14,5:10,7:24,12:22,22,11,12
chr1	179635645	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,19|22,13;DP=99;ECNT=1;GERMQ=60;MBQ=20,20;MFRL=185,186;MMQ=60,60;MPOS=42;NALOD=1.01;NLOD=7.95;POPAF=3.1;RPA=10,9;RU=T;STR;STRQ=93;TLOD=44.75;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TDRD5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0004;AF_male=0.0005;AF_female=0.0002;AF_afr=0.0007;AF_ami=0;AF_amr=7.423e-05;AF_asj=0;AF_eas=0;AF_fin=0.0004;AF_nfe=0.0002;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs538293367;ExAC_ALL=0.0055;ExAC_AFR=0.0062;ExAC_AMR=0.0032;ExAC_EAS=0.0049;ExAC_FIN=0.0005;ExAC_NFE=0.0079;ExAC_OTH=0.0023;ExAC_SAS=0.0006;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.034:35:14,0:12,0:27,0:24,11,0,0	0/1:20,35:0.666:55:5,10:7,13:12,23:12,8,22,13
chr1	179992233	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,26|16,22;DP=100;ECNT=1;GERMQ=55;MBQ=20,20;MFRL=204,175;MMQ=60,60;MPOS=40;NALOD=1.11;NLOD=7.06;POPAF=1.55;RPA=10,9;RU=A;STR;STRQ=93;TLOD=38.82;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CEP350;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0315;AF_raw=0.0310;AF_male=0.0313;AF_female=0.0318;AF_afr=0.0553;AF_ami=0.0012;AF_amr=0.0244;AF_asj=0.0332;AF_eas=0.0765;AF_fin=0.0120;AF_nfe=0.0162;AF_oth=0.0378;AF_sas=0.0763;ALL.sites.2015_08=0.0515176;AFR.sites.2015_08=0.0666;ALL.sites.2015_08=0.0515176;EUR.sites.2015_08=0.0189;AMR.sites.2015_08=0.0245;EUR.sites.2015_08=0.0189;EAS.sites.2015_08=0.0655;SAS.sites.2015_08=0.0695;avsnp150=rs148001345;ExAC_ALL=0.1005;ExAC_AFR=0.1009;ExAC_AMR=0.0619;ExAC_EAS=0.1479;ExAC_FIN=0.0196;ExAC_NFE=0.1003;ExAC_OTH=0.1316;ExAC_SAS=0.1227;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.039:35:8,0:12,0:24,0:16,19,0,0	0/1:12,38:0.745:50:2,9:3,10:7,22:5,7,16,22
chr1	180435256	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,27|9,14;DP=78;ECNT=1;GERMQ=29;MBQ=20,20;MFRL=181,166;MMQ=60,60;MPOS=43;NALOD=1.05;NLOD=5.94;POPAF=2.59;RPA=10,9;RU=T;STR;STRQ=71;TLOD=23.79;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ACBD6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=3.606e-05;AF_raw=0.0003;AF_male=2.99e-05;AF_female=4.179e-05;AF_afr=4.907e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=3.169e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs913558276;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:30,0:0.045:30:8,0:8,0:20,0:12,18,0,0	0/1:17,23:0.605:40:3,5:6,4:9,14:8,9,9,14
chr1	180787871	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,34|9,12;DP=97;ECNT=1;GERMQ=27;MBQ=20,20;MFRL=191,174;MMQ=60,60;MPOS=47;NALOD=0.972;NLOD=4.73;POPAF=2.07;RPA=10,9;RU=T;STR;STRQ=15;TLOD=15.66;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=XPR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0009;AF_male=0.0002;AF_female=6.954e-05;AF_afr=0.0001;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=0.0005;AF_nfe=4.749e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs769005144;ExAC_ALL=0.0709;ExAC_AFR=0.0578;ExAC_AMR=0.0648;ExAC_EAS=0.0711;ExAC_FIN=0.0236;ExAC_NFE=0.0702;ExAC_OTH=0.0716;ExAC_SAS=0.1148;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.054:24:4,0:9,0:16,0:11,13,0,0	0/1:39,21:0.346:60:8,6:11,4:23,12:18,21,9,12
chr1	180834856	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=55,42|11,12;DP=124;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,169;MMQ=60,60;MPOS=35;NALOD=1.23;NLOD=9.4;POPAF=3.33;RPA=10,9;RU=T;STR;STRQ=11;TLOD=16.36;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=XPR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.132e-05;AF_raw=7.723e-05;AF_male=2.941e-05;AF_female=1.375e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.135e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs765612962;ExAC_ALL=0.0085;ExAC_AFR=0.0021;ExAC_AMR=0.0056;ExAC_EAS=0.0048;ExAC_FIN=0.0004;ExAC_NFE=0.0122;ExAC_OTH=0.0063;ExAC_SAS=0.0072;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.029:48:16,0:15,0:32,0:29,19,0,0	0/1:49,23:0.328:72:16,8:11,3:27,13:26,23,11,12
chr1	181721701	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=19,12|4,2;DP=39;ECNT=1;GERMQ=36;MBQ=20,20;MFRL=198,224;MMQ=60,60;MPOS=11;NALOD=1.22;NLOD=4.52;POPAF=4.31;TLOD=14.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CACNA1E;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.397e-05;AF_raw=1.395e-05;AF_male=0;AF_female=2.711e-05;AF_afr=0;AF_ami=0;AF_amr=7.331e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs891501617;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.057:22:11,0:1,0:15,0:12,10,0,0	0/1:9,6:0.385:15:3,3:4,1:7,4:7,2,4,2
chr1	181796754	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=78,81|20,20;DP=203;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=151,142;MMQ=60,60;MPOS=37;NALOD=1.59;NLOD=11.43;POPAF=6;TLOD=79.54;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CACNA1E;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1E:NM_001205294:exon45:c.C6109T:p.R2037C,CACNA1E:NM_000721:exon46:c.C6166T:p.R2056C,CACNA1E:NM_001205293:exon47:c.C6295T:p.R2099C;cytoBand=1q25.3;SIFT_score=0.004;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.015;SIFT4G_converted_rankscore=0.616;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_rankscore=0.863;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.505;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.49;MutationAssessor_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=-5.38;FATHMM_converted_rankscore=0.990;FATHMM_pred=D;PROVEAN_score=-4.78;PROVEAN_converted_rankscore=0.837;PROVEAN_pred=D;VEST4_score=0.79;VEST4_rankscore=0.800;MetaSVM_score=1.133;MetaSVM_rankscore=0.999;MetaSVM_pred=D;MetaLR_score=0.961;MetaLR_rankscore=0.988;MetaLR_pred=D;MetaRNN_score=0.703;MetaRNN_rankscore=0.726;MetaRNN_pred=D;M-CAP_score=0.475;M-CAP_rankscore=0.947;M-CAP_pred=D;REVEL_score=0.708;REVEL_rankscore=0.897;MutPred_score=0.252;MutPred_rankscore=0.191;MVP_score=0.928;MVP_rankscore=0.927;MPC_score=1.018;MPC_rankscore=0.750;PrimateAI_score=0.844;PrimateAI_rankscore=0.887;PrimateAI_pred=D;DEOGEN2_score=0.798;DEOGEN2_rankscore=0.948;DEOGEN2_pred=D;BayesDel_addAF_score=0.523;BayesDel_addAF_rankscore=0.950;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.514;BayesDel_noAF_rankscore=0.949;BayesDel_noAF_pred=D;ClinPred_score=0.972;ClinPred_rankscore=0.694;ClinPred_pred=D;LIST-S2_score=0.991;LIST-S2_rankscore=0.973;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=3.634;CADD_raw_rankscore=0.676;CADD_phred=25.2;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.978;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.933;fathmm-XF_coding_rankscore=0.923;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.757;Eigen-raw_coding_rankscore=0.834;Eigen-PC-raw_coding=0.794;Eigen-PC-raw_coding_rankscore=0.894;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.91;GERP++_RS=5.91;GERP++_RS_rankscore=0.952;phyloP100way_vertebrate=7.239;phyloP100way_vertebrate_rankscore=0.776;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=19.894;SiPhy_29way_logOdds_rankscore=0.969;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs772102201;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:66,0:0.025:66:18,0:19,0:38,0:30,36,0,0	0/1:93,40:0.307:133:28,15:22,6:50,22:48,45,20,20
chr1	182586809	COSV100842603	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,56|19,21;DP=140;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,163;MMQ=60,60;MPOS=46;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=89.67;AA=p.?,p.?;CDS=c.-3G>A,c.-3G>A;CNT=1,1;GENE=RNASEL,RNASEL_ENST00000539397;HGVSC=ENST00000367559.7:c.-3G>A,ENST00000539397.1:c.-3G>A;HGVSG=1:g.182586809C>T,1:g.182586809C>T;LEGACY_ID=COSN30608528,COSN30608528;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=RNASEL;GeneDetail.refGene=NM_021133:c.-3G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:49,0:0.03:49:13,0:15,0:31,0:21,28,0,0	0/1:49,40:0.442:89:12,10:16,12:28,22:21,28,19,21
chr1	182602344	.	CAGT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,16|1,1;DP=40;ECNT=1;GERMQ=64;MBQ=20,20;MFRL=192,163;MMQ=60,60;MPOS=60;NALOD=1.15;NLOD=3.91;POPAF=6;TLOD=5.94;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RGS16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:17,0:0.067:17:9,0:4,0:13,0:10,7,0,0	0/1:19,2:0.152:21:5,0:5,1:10,1:10,9,1,1
chr1	182951530	.	GTTTT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=0,11|0,3;DP=21;ECNT=1;GERMQ=24;MBQ=38,30;MFRL=282,182;MMQ=60,60;MPOS=22;NALOD=1.08;NLOD=2.98;POPAF=6;RPA=14,10;RU=T;STR;STRQ=93;TLOD=9.35;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SHCBP1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:10,0:0.077:10:3,0:2,0:10,0:0,10,0,0	0/1:1,3:0.671:4:0,0:0,1:1,3:0,1,0,3
chr1	182953055	COSV62356154	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=73,83|14,16;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,139;MMQ=60,60;MPOS=47;NALOD=1.69;NLOD=14.14;POPAF=6;TLOD=62.23;AA=p.A27T;CDS=c.79G>A;CNT=1;GENE=SHCBP1L;HGVSC=ENST00000367547.7:c.79G>A;HGVSG=1:g.182953055C>T;HGVSP=ENSP00000356518.3:p.Ala27Thr;LEGACY_ID=COSM6855888;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=SHCBP1L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SHCBP1L:NM_030933:exon1:c.G79A:p.A27T;cytoBand=1q25.3;SIFT_score=0.132;SIFT_converted_rankscore=0.265;SIFT_pred=T;SIFT4G_score=0.328;SIFT4G_converted_rankscore=0.187;SIFT4G_pred=T;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.9;FATHMM_converted_rankscore=0.452;FATHMM_pred=T;PROVEAN_score=-0.12;PROVEAN_converted_rankscore=0.088;PROVEAN_pred=N;VEST4_score=0.06;VEST4_rankscore=0.032;MetaSVM_score=-1.054;MetaSVM_rankscore=0.132;MetaSVM_pred=T;MetaLR_score=0.049;MetaLR_rankscore=0.209;MetaLR_pred=T;MetaRNN_score=0.061;MetaRNN_rankscore=0.075;MetaRNN_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.381;M-CAP_pred=T;REVEL_score=0.020;REVEL_rankscore=0.038;MutPred_score=0.159;MutPred_rankscore=0.063;MVP_score=0.014;MVP_rankscore=0.004;MPC_score=0.164;MPC_rankscore=0.185;PrimateAI_score=0.364;PrimateAI_rankscore=0.199;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.361;BayesDel_addAF_rankscore=0.040;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.757;BayesDel_noAF_rankscore=0.032;BayesDel_noAF_pred=T;ClinPred_score=0.067;ClinPred_rankscore=0.082;ClinPred_pred=T;LIST-S2_score=0.397;LIST-S2_rankscore=0.100;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=0.494;CADD_raw_rankscore=0.091;CADD_phred=6.444;DANN_score=0.970;DANN_rankscore=0.319;fathmm-MKL_coding_score=0.028;fathmm-MKL_coding_rankscore=0.075;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.034;fathmm-XF_coding_rankscore=0.042;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.210;Eigen-raw_coding_rankscore=0.049;Eigen-PC-raw_coding=-1.266;Eigen-PC-raw_coding_rankscore=0.049;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.62;GERP++_RS=0.423;GERP++_RS_rankscore=0.157;phyloP100way_vertebrate=-0.275;phyloP100way_vertebrate_rankscore=0.086;phyloP30way_mammalian=-0.475;phyloP30way_mammalian_rankscore=0.057;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=4.438;SiPhy_29way_logOdds_rankscore=0.110;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:76,0:0.02:76:15,0:30,0:47,0:35,41,0,0	0/1:80,30:0.273:110:20,6:23,9:47,17:38,42,14,16
chr1	183142772	COSV51140476	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,52|9,11;DP=124;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=177,129;MMQ=60,60;MPOS=28;NALOD=1.59;NLOD=11.14;POPAF=4.01;TLOD=42.24;AA=p.P1604%3D;CDS=c.4812G>A;CNT=3;GENE=LAMC1;HGVSC=ENST00000258341.4:c.4812G>A;HGVSG=1:g.183142772G>A;HGVSP=ENSP00000258341.3:p.Pro1604%3D;LEGACY_ID=COSM4697368;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LAMC1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMC1:NM_002293:exon28:c.G4812A:p.P1604P;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.682e-05;AF_raw=7.673e-05;AF_male=8.648e-05;AF_female=6.774e-05;AF_afr=0.0002;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs184867626;ExAC_ALL=5.95e-05;ExAC_AFR=0.0005;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=7.104e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.025:60:13,0:21,0:37,0:27,33,0,0	0/1:37,20:0.347:57:6,6:17,5:23,12:18,19,9,11
chr1	183228646	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,33|4,4;DP=63;ECNT=1;GERMQ=83;MBQ=20,20;MFRL=167,162;MMQ=60,60;MPOS=20;NALOD=1.34;NLOD=6.32;POPAF=6;TLOD=17.17;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LAMC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.043:33:6,0:12,0:21,0:13,20,0,0	0/1:22,8:0.3:30:4,2:7,2:13,5:9,13,4,4
chr1	184051894	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=51,59|11,18;DP=141;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,137;MMQ=60,60;MPOS=18;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=67.69;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TSEN15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.03:50:13,0:17,0:31,0:23,27,0,0	0/1:60,29:0.358:89:16,7:15,8:33,18:28,32,11,18
chr1	184072812	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=37,35|13,12;DP=102;ECNT=1;GERMQ=15;MBQ=20,20;MFRL=158,144;MMQ=60,60;MPOS=42;NALOD=-0.6415;NLOD=2.72;POPAF=3.09;RPA=10,9;RU=T;STR;STRQ=28;TLOD=18.19;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TSEN15;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.408e-05;AF_raw=0.0001;AF_male=4.418e-05;AF_female=8.269e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0016;AF_fin=0.0001;AF_nfe=3.143e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs746116000;ExAC_ALL=0.0129;ExAC_AFR=0.0063;ExAC_AMR=0.0070;ExAC_EAS=0.0121;ExAC_FIN=0.0025;ExAC_NFE=0.0181;ExAC_OTH=0.0094;ExAC_SAS=0.0053;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,1:0.096:32:6,0:12,0:18,1:17,14,0,1	0/1:41,24:0.359:65:10,6:10,7:24,13:20,21,13,11
chr1	185092973	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,0|3,1;DP=16;ECNT=1;GERMQ=19;MBQ=33,29;MFRL=244,191;MMQ=60,60;MPOS=23;NALOD=1.02;NLOD=2.71;POPAF=4.61;TLOD=11.72;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RNF2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.792e-05;AF_raw=2.79e-05;AF_male=2.881e-05;AF_female=2.709e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0013;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs951629110;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:9,0:0.088:9:5,0:4,0:9,0:9,0,0,0	0/1:2,4:0.571:6:1,1:1,2:2,3:2,0,3,1
chr1	185151795	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,22|14,11;DP=83;ECNT=1;GERMQ=89;MBQ=20,20;MFRL=170,153;MMQ=60,60;MPOS=29;NALOD=0.903;NLOD=8.42;POPAF=6;RPA=12,10;RU=A;STR;STRQ=93;TLOD=26.41;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TRMT1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.92e-06;AF_raw=7.468e-06;AF_male=1.66e-05;AF_female=0;AF_afr=2.676e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs747068234;ExAC_ALL=0.0002;ExAC_AFR=0.0009;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0.0004;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.033:42:15,0:12,0:28,0:26,16,0,0	0/1:11,25:0.682:36:4,6:1,8:6,14:5,6,14,11
chr1	185171664	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=19,28|22,25;DP=104;ECNT=2;GERMQ=26;MBQ=20,20;MFRL=172,145;MMQ=60,60;MPOS=42;NALOD=-0.5094;NLOD=3.38;POPAF=2.15;RPA=10,9;RU=T;STR;STRQ=93;TLOD=41.54;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SWT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0010;AF_male=0.0004;AF_female=0.0004;AF_afr=0.0001;AF_ami=0;AF_amr=0.0003;AF_asj=0;AF_eas=0;AF_fin=0.0035;AF_nfe=0.0002;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs937418762;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,1:0.087:32:6,1:7,0:20,1:13,18,0,1	0/1:16,46:0.707:62:2,16:5,7:10,24:6,10,22,24
chr1	185171735	.	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=4,11|2,5;DP=34;ECNT=2;GERMQ=8;MBQ=20,20;MFRL=197,167;MMQ=60,60;MPOS=44;NALOD=1.03;NLOD=2.69;POPAF=3.35;RPA=10,9;RU=T;STR;STRQ=3;TLOD=6.87;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=SWT1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.447e-05;AF_raw=9.159e-05;AF_male=8.891e-05;AF_female=4.16e-05;AF_afr=7.335e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=9.459e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.086:12:1,0:2,0:9,0:3,9,0,0	0/1:3,7:0.663:10:0,3:1,1:2,5:1,2,2,5
chr1	185301197	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=60,72|5,5;DP=142;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,119;MMQ=60,60;MPOS=46;NALOD=1.57;NLOD=10.79;POPAF=6;TLOD=16.88;ANNOVAR_DATE=2020-06-08;Func.refGene=splicing;Gene.refGene=IVNS1ABP;GeneDetail.refGene=NM_006469:exon10:c.896-1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q25.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.405;BayesDel_addAF_rankscore=0.902;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.343;BayesDel_noAF_rankscore=0.901;BayesDel_noAF_pred=D;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=5.086;CADD_raw_rankscore=0.935;CADD_phred=33;DANN_score=0.995;DANN_rankscore=0.695;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.959;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=1.176;Eigen-raw_coding_rankscore=0.993;Eigen-PC-raw_coding=1.036;Eigen-PC-raw_coding_rankscore=0.992;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.359;integrated_fitCons_rankscore=0.056;integrated_confidence_value=0;LINSIGHT=0.993;LINSIGHT_rankscore=0.999;GERP++_NR=5.56;GERP++_RS=5.56;GERP++_RS_rankscore=0.837;phyloP100way_vertebrate=7.276;phyloP100way_vertebrate_rankscore=0.779;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=19.896;SiPhy_29way_logOdds_rankscore=0.970;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:59,0:0.026:59:15,0:19,0:36,0:25,34,0,0	0/1:73,10:0.133:83:21,4:16,1:38,5:35,38,5,5
chr1	186062505	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,33|13,9;DP=97;ECNT=1;GERMQ=90;MBQ=20,20;MFRL=180,150;MMQ=60,60;MPOS=35;NALOD=1.4;NLOD=7.21;POPAF=6;RPA=6,5;RU=T;STR;STRQ=93;TLOD=22.93;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HMCN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.987e-06;AF_raw=6.976e-06;AF_male=0;AF_female=1.355e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.55e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs756744413;ExAC_ALL=8.409e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.532e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,0:0.038:32:10,0:9,0:24,0:17,15,0,0	0/1:39,22:0.387:61:8,4:12,9:21,13:21,18,13,9
chr1	186093119	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=46,28|6,4;DP=85;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=175,159;MMQ=60,60;MPOS=22;NALOD=1.36;NLOD=6.62;POPAF=6;TLOD=20.76;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HMCN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.042:34:12,0:10,0:22,0:22,12,0,0	0/1:40,10:0.212:50:14,2:9,4:25,6:24,16,6,4
chr1	186119970	.	CTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,30|15,10;DP=88;ECNT=1;GERMQ=79;MBQ=20,20;MFRL=204,201;MMQ=60,60;MPOS=35;NALOD=1.19;NLOD=8.4;POPAF=6;RPA=10,8;RU=T;STR;STRQ=93;TLOD=51.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HMCN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.033:37:10,0:8,0:28,0:16,21,0,0	0/1:20,25:0.552:45:1,9:11,6:13,16:11,9,15,10
chr1	186308804	.	A	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=80,68|11,10;DP=172;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=152,143;MMQ=60,60;MPOS=37;NALOD=1.77;NLOD=17.41;POPAF=6;TLOD=40.96;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PRG4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRG4:NM_001127710:exon4:c.A2683C:p.K895Q,PRG4:NM_001127709:exon5:c.A2806C:p.K936Q,PRG4:NM_001127708:exon6:c.A2962C:p.K988Q,PRG4:NM_001303232:exon6:c.A2956C:p.K986Q,PRG4:NM_005807:exon7:c.A3085C:p.K1029Q;cytoBand=1q31.1;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.514;SIFT4G_converted_rankscore=0.215;SIFT4G_pred=T;Polyphen2_HDIV_score=0.141;Polyphen2_HDIV_rankscore=0.303;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.047;Polyphen2_HVAR_rankscore=0.308;Polyphen2_HVAR_pred=B;LRT_score=0.494;LRT_converted_rankscore=0.120;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.045;MutationAssessor_rankscore=0.560;MutationAssessor_pred=M;FATHMM_score=3.42;FATHMM_converted_rankscore=0.061;FATHMM_pred=T;PROVEAN_score=-2.18;PROVEAN_converted_rankscore=0.503;PROVEAN_pred=N;VEST4_score=0.072;VEST4_rankscore=0.109;MetaSVM_score=-0.947;MetaSVM_rankscore=0.415;MetaSVM_pred=T;MetaLR_score=0.015;MetaLR_rankscore=0.062;MetaLR_pred=T;MetaRNN_score=0.118;MetaRNN_rankscore=0.224;MetaRNN_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.175;M-CAP_pred=T;REVEL_score=0.032;REVEL_rankscore=0.080;MutPred_score=0.348;MutPred_rankscore=0.344;MVP_score=0.055;MVP_rankscore=0.047;MPC_score=0.037;MPC_rankscore=0.039;PrimateAI_score=0.200;PrimateAI_rankscore=0.005;PrimateAI_pred=T;DEOGEN2_score=0.088;DEOGEN2_rankscore=0.380;DEOGEN2_pred=T;BayesDel_addAF_score=-0.253;BayesDel_addAF_rankscore=0.138;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.601;BayesDel_noAF_rankscore=0.127;BayesDel_noAF_pred=T;ClinPred_score=0.378;ClinPred_rankscore=0.281;ClinPred_pred=T;LIST-S2_score=0.623;LIST-S2_rankscore=0.245;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=0.187;CADD_raw_rankscore=0.058;CADD_phred=2.974;DANN_score=0.751;DANN_rankscore=0.110;fathmm-MKL_coding_score=0.236;fathmm-MKL_coding_rankscore=0.221;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.710;fathmm-XF_coding_rankscore=0.664;fathmm-XF_coding_pred=D;Eigen-raw_coding=-0.653;Eigen-raw_coding_rankscore=0.174;Eigen-PC-raw_coding=-0.667;Eigen-PC-raw_coding_rankscore=0.178;GenoCanyon_score=0.004;GenoCanyon_rankscore=0.104;integrated_fitCons_score=0.428;integrated_fitCons_rankscore=0.067;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.7;GERP++_RS=1.25;GERP++_RS_rankscore=0.205;phyloP100way_vertebrate=-0.101;phyloP100way_vertebrate_rankscore=0.109;phyloP30way_mammalian=0.266;phyloP30way_mammalian_rankscore=0.268;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.223;phastCons30way_mammalian_rankscore=0.226;SiPhy_29way_logOdds=4.734;SiPhy_29way_logOdds_rankscore=0.124;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:87,0:0.017:87:26,0:25,0:58,0:47,40,0,0	0/1:61,21:0.261:82:15,6:18,5:33,11:33,28,11,10
chr1	186332305	COSV66605000	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=68,67|13,14;DP=169;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=156,158;MMQ=60,60;MPOS=34;NALOD=1.7;NLOD=14.74;POPAF=6;TLOD=57.89;AA=p.R1832C;CDS=c.5494C>T;CNT=1;GENE=TPR;HGVSC=ENST00000367478.8:c.5494C>T;HGVSG=1:g.186332305G>A;HGVSP=ENSP00000356448.3:p.Arg1832Cys;LEGACY_ID=COSM6807004;STRAND=-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TPR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TPR:NM_003292:exon38:c.C5494T:p.R1832C;cytoBand=1q31.1;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.002;SIFT4G_converted_rankscore=0.794;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.845;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.955;MutationAssessor_rankscore=0.529;MutationAssessor_pred=M;FATHMM_score=1.66;FATHMM_converted_rankscore=0.275;FATHMM_pred=T;PROVEAN_score=-3.0;PROVEAN_converted_rankscore=0.623;PROVEAN_pred=D;VEST4_score=0.521;VEST4_rankscore=0.551;MetaSVM_score=-0.611;MetaSVM_rankscore=0.644;MetaSVM_pred=T;MetaLR_score=0.212;MetaLR_rankscore=0.573;MetaLR_pred=T;MetaRNN_score=0.516;MetaRNN_rankscore=0.624;MetaRNN_pred=D;M-CAP_score=0.061;M-CAP_rankscore=0.681;M-CAP_pred=D;REVEL_score=0.255;REVEL_rankscore=0.570;MutPred_score=0.149;MutPred_rankscore=0.052;MVP_score=0.202;MVP_rankscore=0.199;MPC_score=0.917;MPC_rankscore=0.713;PrimateAI_score=0.640;PrimateAI_rankscore=0.585;PrimateAI_pred=T;DEOGEN2_score=0.139;DEOGEN2_rankscore=0.474;DEOGEN2_pred=T;BayesDel_addAF_score=0.041;BayesDel_addAF_rankscore=0.572;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.179;BayesDel_noAF_rankscore=0.566;BayesDel_noAF_pred=T;ClinPred_score=0.971;ClinPred_rankscore=0.691;ClinPred_pred=D;LIST-S2_score=0.975;LIST-S2_rankscore=0.912;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=4.269;CADD_raw_rankscore=0.875;CADD_phred=29.3;DANN_score=0.999;DANN_rankscore=0.993;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.764;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.678;fathmm-XF_coding_rankscore=0.643;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.723;Eigen-raw_coding_rankscore=0.811;Eigen-PC-raw_coding=0.666;Eigen-PC-raw_coding_rankscore=0.798;GenoCanyon_score=0.999;GenoCanyon_rankscore=0.395;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.64;GERP++_RS=4.64;GERP++_RS_rankscore=0.574;phyloP100way_vertebrate=6.026;phyloP100way_vertebrate_rankscore=0.705;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.999;phastCons30way_mammalian_rankscore=0.704;SiPhy_29way_logOdds=17.524;SiPhy_29way_logOdds_rankscore=0.877;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:78,0:0.019:78:24,0:23,0:49,0:39,39,0,0	0/1:57,27:0.327:84:14,9:15,5:32,15:29,28,13,14
chr1	186361563	.	TAA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,24|10,10;DP=95;ECNT=1;GERMQ=44;MBQ=20,20;MFRL=178,153;MMQ=60,60;MPOS=12;NALOD=0.983;NLOD=7.49;POPAF=2.52;RPA=13,11;RU=A;STR;STRQ=93;TLOD=17.75;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TPR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=0.0004;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.00319489;AFR.sites.2015_08=0.0061;ALL.sites.2015_08=0.00319489;EUR.sites.2015_08=0.001;AMR.sites.2015_08=0.0014;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0061;avsnp150=rs542730028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.037:35:13,0:11,0:25,0:22,13,0,0	0/1:30,20:0.373:50:12,5:4,6:19,11:19,11,10,10
chr1	186388390	COSV55220324	AT	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,14|4,2;DP=40;ECNT=2;GERMQ=23;MBQ=20,20;MFRL=199,202;MMQ=60,60;MPOS=24;NALOD=1.04;NLOD=2.95;POPAF=3.31;TLOD=4.78;AA=p.?,p.?,p.?;CDS=c.331-51del,c.235-51del,c.331-51del;CNT=1,1,1;GENE=ODR4_ENST00000367470,ODR4_ENST00000419367,ODR4;HGVSC=ENST00000367470.8:c.331-51del,ENST00000419367.8:c.235-51del,ENST00000287859.10:c.331-51del;HGVSG=1:g.186388391del,1:g.186388391del,1:g.186388391del;LEGACY_ID=COSN28846603,COSN28846603,COSN28846603;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ODR4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=5.612e-05;AF_raw=9.779e-05;AF_male=4.344e-05;AF_female=6.804e-05;AF_afr=0.0002;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs956768557;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:16,0:0.084:16:3,0:6,0:10,0:0|1:186388390_AT_A:186388390:10,6,0,0	0|1:18,6:0.312:24:4,2:6,2:10,4:0|1:186388390_AT_A:186388390:10,8,4,2
chr1	186388393	COSV55215710	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,14|4,2;DP=43;ECNT=2;GERMQ=21;MBQ=20,20;MFRL=199,202;MMQ=60,60;MPOS=26;NALOD=1.04;NLOD=2.95;POPAF=3.31;TLOD=4.77;AA=p.?,p.?,p.?;CDS=c.331-49T>C,c.235-49T>C,c.331-49T>C;CNT=5,5,5;GENE=ODR4,ODR4_ENST00000419367,ODR4_ENST00000367470;HGVSC=ENST00000287859.10:c.331-49T>C,ENST00000419367.8:c.235-49T>C,ENST00000367470.8:c.331-49T>C;HGVSG=1:g.186388393T>C,1:g.186388393T>C,1:g.186388393T>C;LEGACY_ID=COSN7189036,COSN7189036,COSN7189036;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ODR4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=5.617e-05;AF_raw=9.784e-05;AF_male=4.346e-05;AF_female=6.813e-05;AF_afr=0.0002;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs773854926;ExAC_ALL=0.0023;ExAC_AFR=0.0015;ExAC_AMR=0;ExAC_EAS=0.0018;ExAC_FIN=0;ExAC_NFE=0.0036;ExAC_OTH=0.0059;ExAC_SAS=0.0011;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:16,0:0.084:16:4,0:6,0:10,0:0|1:186388390_AT_A:186388390:10,6,0,0	0|1:18,6:0.311:24:4,2:6,2:10,4:0|1:186388390_AT_A:186388390:10,8,4,2
chr1	192159243	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=68,57|18,13;DP=159;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,157;MMQ=60,60;MPOS=34;NALOD=1.52;NLOD=9.63;POPAF=6;TLOD=67.6;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RGS18;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RGS18:NM_130782:exon2:c.T143C:p.L48P;cytoBand=1q31.2;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.002;SIFT4G_converted_rankscore=0.794;SIFT4G_pred=D;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_rankscore=0.707;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.936;Polyphen2_HVAR_rankscore=0.671;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.403;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.165;MutationAssessor_rankscore=0.886;MutationAssessor_pred=M;FATHMM_score=0.25;FATHMM_converted_rankscore=0.594;FATHMM_pred=T;PROVEAN_score=-5.66;PROVEAN_converted_rankscore=0.871;PROVEAN_pred=D;VEST4_score=0.902;VEST4_rankscore=0.903;MetaSVM_score=-0.112;MetaSVM_rankscore=0.798;MetaSVM_pred=T;MetaLR_score=0.405;MetaLR_rankscore=0.755;MetaLR_pred=T;MetaRNN_score=0.869;MetaRNN_rankscore=0.862;MetaRNN_pred=D;M-CAP_score=0.055;M-CAP_rankscore=0.662;M-CAP_pred=D;REVEL_score=0.420;REVEL_rankscore=0.732;MutPred_score=0.501;MutPred_rankscore=0.593;MVP_score=0.884;MVP_rankscore=0.882;MPC_score=0.381;MPC_rankscore=0.395;PrimateAI_score=0.556;PrimateAI_rankscore=0.467;PrimateAI_pred=T;DEOGEN2_score=0.530;DEOGEN2_rankscore=0.837;DEOGEN2_pred=D;BayesDel_addAF_score=0.183;BayesDel_addAF_rankscore=0.723;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.025;BayesDel_noAF_rankscore=0.719;BayesDel_noAF_pred=D;ClinPred_score=0.993;ClinPred_rankscore=0.836;ClinPred_pred=D;LIST-S2_score=0.679;LIST-S2_rankscore=0.287;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=4.087;CADD_raw_rankscore=0.817;CADD_phred=27.6;DANN_score=0.999;DANN_rankscore=0.948;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.568;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.815;fathmm-XF_coding_rankscore=0.737;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.651;Eigen-raw_coding_rankscore=0.764;Eigen-PC-raw_coding=0.576;Eigen-PC-raw_coding_rankscore=0.732;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.500;integrated_fitCons_rankscore=0.202;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.88;GERP++_RS=5.88;GERP++_RS_rankscore=0.946;phyloP100way_vertebrate=4.704;phyloP100way_vertebrate_rankscore=0.615;phyloP30way_mammalian=1.118;phyloP30way_mammalian_rankscore=0.561;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.413;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=13.670;SiPhy_29way_logOdds_rankscore=0.619;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.029:53:15,0:17,0:32,0:28,25,0,0	0/1:72,31:0.311:103:22,9:18,9:41,18:40,32,18,13
chr1	196740606	.	CTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,28|8,5;DP=88;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=195,157;MMQ=60,60;MPOS=29;NALOD=1.01;NLOD=8.1;POPAF=6;RPA=10,8;RU=T;STR;STRQ=93;TLOD=23.88;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CFH;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=2.117e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.034:40:13,0:13,0:27,0:24,16,0,0	0/1:31,13:0.3:44:7,4:12,4:20,8:19,12,8,5
chr1	196857665	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,27|8,5;DP=72;ECNT=1;GERMQ=70;MBQ=20,20;MFRL=160,181;MMQ=60,60;MPOS=47;NALOD=1.31;NLOD=5.72;POPAF=6;TLOD=29.78;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=CFHR1\x3bCFHR4;GeneDetail.refGene=dist\x3d25476\x3bdist\x3d30387;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.047:31:10,0:9,0:19,0:14,17,0,0	0/1:23,13:0.391:36:8,2:4,6:13,8:13,10,8,5
chr1	196949608	COSV66381091	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=73,91|20,20;DP=207;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,132;MMQ=60,60;MPOS=39;NALOD=1.7;NLOD=14.74;POPAF=2.21;TLOD=85.29;AA=p.T71M,p.T71M,p.T71M;CDS=c.212C>T,c.212C>T,c.212C>T;CNT=1,1,1;GENE=CFHR2,CFHR2_ENST00000476712,BX248415.1;HGVSC=ENST00000367415.6:c.212C>T,ENST00000476712.6:c.212C>T,ENST00000367421.4:c.212C>T;HGVSG=1:g.196949608C>T,1:g.196949608C>T,1:g.196949608C>T;HGVSP=ENSP00000356385.4:p.Thr71Met,ENSP00000476677.1:p.Thr71Met,ENSP00000356391.3:p.Thr71Met;LEGACY_ID=COSM901593,COSM901593,COSM901593;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CFHR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CFHR2:NM_005666:exon2:c.C212T:p.T71M;cytoBand=1q31.3;SIFT_score=0.039;SIFT_converted_rankscore=0.425;SIFT_pred=D;SIFT4G_score=0.267;SIFT4G_converted_rankscore=0.226;SIFT4G_pred=T;Polyphen2_HDIV_score=0.214;Polyphen2_HDIV_rankscore=0.301;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.091;Polyphen2_HVAR_rankscore=0.299;Polyphen2_HVAR_pred=B;LRT_score=0.261;LRT_converted_rankscore=0.153;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.41;MutationAssessor_rankscore=0.355;MutationAssessor_pred=L;FATHMM_score=-0.45;FATHMM_converted_rankscore=0.699;FATHMM_pred=T;PROVEAN_score=-2.51;PROVEAN_converted_rankscore=0.545;PROVEAN_pred=D;VEST4_score=0.153;VEST4_rankscore=0.157;MetaSVM_score=-0.989;MetaSVM_rankscore=0.329;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_rankscore=0.418;MetaLR_pred=T;MetaRNN_score=0.028;MetaRNN_rankscore=0.010;MetaRNN_pred=T;M-CAP_score=0.030;M-CAP_rankscore=0.523;M-CAP_pred=D;REVEL_score=0.107;REVEL_rankscore=0.308;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.394;MVP_rankscore=0.390;MPC_score=0.022;MPC_rankscore=0.022;PrimateAI_score=0.294;PrimateAI_rankscore=0.096;PrimateAI_pred=T;DEOGEN2_score=0.015;DEOGEN2_rankscore=0.218;DEOGEN2_pred=T;BayesDel_addAF_score=-0.510;BayesDel_addAF_rankscore=0.005;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.496;BayesDel_noAF_rankscore=0.228;BayesDel_noAF_pred=T;ClinPred_score=0.019;ClinPred_rankscore=0.006;ClinPred_pred=T;LIST-S2_score=0.630;LIST-S2_rankscore=0.245;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=-1.008;CADD_raw_rankscore=0.005;CADD_phred=0.007;DANN_score=0.811;DANN_rankscore=0.135;fathmm-MKL_coding_score=0.008;fathmm-MKL_coding_rankscore=0.032;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.252;fathmm-XF_coding_rankscore=0.372;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.976;Eigen-raw_coding_rankscore=0.091;Eigen-PC-raw_coding=-1.120;Eigen-PC-raw_coding_rankscore=0.073;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.012;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.33;GERP++_RS=-1.65;GERP++_RS_rankscore=0.078;phyloP100way_vertebrate=-2.176;phyloP100way_vertebrate_rankscore=0.013;phyloP30way_mammalian=-0.545;phyloP30way_mammalian_rankscore=0.052;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.240;phastCons30way_mammalian_rankscore=0.230;SiPhy_29way_logOdds=0.781;SiPhy_29way_logOdds_rankscore=0.010;Interpro_domain=.\x3bSushi/SCR/CCP_domain|Sushi/SCR/CCP_domain\x3bSushi/SCR/CCP_domain|Sushi/SCR/CCP_domain|Sushi/SCR/CCP_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0038;AF_raw=0.0038;AF_male=0.0038;AF_female=0.0039;AF_afr=0.0007;AF_ami=0;AF_amr=0.0011;AF_asj=0.0003;AF_eas=0;AF_fin=0.0040;AF_nfe=0.0069;AF_oth=0.0019;AF_sas=0.0030;ALL.sites.2015_08=0.00139776;AFR.sites.2015_08=.;ALL.sites.2015_08=0.00139776;EUR.sites.2015_08=0.002;AMR.sites.2015_08=.;EUR.sites.2015_08=0.002;EAS.sites.2015_08=.;SAS.sites.2015_08=0.0051;avsnp150=rs144096230;ExAC_ALL=0.0040;ExAC_AFR=0.0005;ExAC_AMR=0.0008;ExAC_EAS=0.0001;ExAC_FIN=0.0053;ExAC_NFE=0.0056;ExAC_OTH=0.0022;ExAC_SAS=0.0033;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:75,0:0.019:75:23,0:24,0:49,0:31,44,0,0	0/1:89,40:0.306:129:16,9:30,11:49,21:42,47,20,20
chr1	197103672	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=88,95|4,4;DP=201;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,156;MMQ=60,60;MPOS=26;NALOD=1.61;NLOD=11.73;POPAF=1.92;TLOD=11.77;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ASPM;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ASPM:NM_018136:exon18:c.C5579T:p.A1860V;cytoBand=1q31.3;SIFT_score=0.046;SIFT_converted_rankscore=0.406;SIFT_pred=D;SIFT4G_score=0.019;SIFT4G_converted_rankscore=0.592;SIFT4G_pred=D;Polyphen2_HDIV_score=0.989;Polyphen2_HDIV_rankscore=0.628;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.614;Polyphen2_HVAR_rankscore=0.512;Polyphen2_HVAR_pred=P;LRT_score=0.048;LRT_converted_rankscore=0.233;LRT_pred=N;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.22;MutationAssessor_rankscore=0.894;MutationAssessor_pred=M;FATHMM_score=-0.61;FATHMM_converted_rankscore=0.718;FATHMM_pred=T;PROVEAN_score=-1.92;PROVEAN_converted_rankscore=0.447;PROVEAN_pred=N;VEST4_score=0.323;VEST4_rankscore=0.364;MetaSVM_score=-0.207;MetaSVM_rankscore=0.775;MetaSVM_pred=T;MetaLR_score=0.203;MetaLR_rankscore=0.561;MetaLR_pred=T;MetaRNN_score=0.009;MetaRNN_rankscore=0.002;MetaRNN_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.351;REVEL_rankscore=0.676;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.876;MVP_rankscore=0.874;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.296;PrimateAI_rankscore=0.097;PrimateAI_pred=T;DEOGEN2_score=0.150;DEOGEN2_rankscore=0.490;DEOGEN2_pred=T;BayesDel_addAF_score=-0.385;BayesDel_addAF_rankscore=0.029;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.291;BayesDel_noAF_rankscore=0.457;BayesDel_noAF_pred=T;ClinPred_score=0.066;ClinPred_rankscore=0.081;ClinPred_pred=T;LIST-S2_score=0.783;LIST-S2_rankscore=0.420;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=2.165;CADD_raw_rankscore=0.340;CADD_phred=20.6;DANN_score=0.996;DANN_rankscore=0.755;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.833;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.522;fathmm-XF_coding_rankscore=0.546;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.673;Eigen-raw_coding_rankscore=0.779;Eigen-PC-raw_coding=0.597;Eigen-PC-raw_coding_rankscore=0.747;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.58;GERP++_RS=5.58;GERP++_RS_rankscore=0.844;phyloP100way_vertebrate=5.540;phyloP100way_vertebrate_rankscore=0.669;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.402;phastCons30way_mammalian_rankscore=0.257;SiPhy_29way_logOdds=14.255;SiPhy_29way_logOdds_rankscore=0.656;Interpro_domain=IQ_motif,_EF-hand_binding_site|IQ_motif,_EF-hand_binding_site;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0148;AF_raw=0.0148;AF_male=0.0143;AF_female=0.0153;AF_afr=0.0459;AF_ami=0;AF_amr=0.0062;AF_asj=0;AF_eas=0.0210;AF_fin=0;AF_nfe=0.0004;AF_oth=0.0107;AF_sas=0.0003;ALL.sites.2015_08=0.0151757;AFR.sites.2015_08=0.0416;ALL.sites.2015_08=0.0151757;EUR.sites.2015_08=.;AMR.sites.2015_08=0.0058;EUR.sites.2015_08=.;EAS.sites.2015_08=0.0169;SAS.sites.2015_08=.;avsnp150=rs77138363;ExAC_ALL=0.0057;ExAC_AFR=0.0478;ExAC_AMR=0.0026;ExAC_EAS=0.0162;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0.0067;ExAC_SAS=6.062e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:57,0:0.024:57:20,0:16,0:39,0:26,31,0,0	0/1:126,8:0.064:134:38,3:29,1:72,4:62,64,4,4
chr1	197167941	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,42|7,9;DP=95;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=174,193;MMQ=60,60;MPOS=39;NALOD=1.17;NLOD=8.13;POPAF=6;TLOD=19.66;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZBTB41;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.109e-05;AF_raw=2.097e-05;AF_male=1.453e-05;AF_female=2.725e-05;AF_afr=2.402e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.112e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs888540367;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:45,0:0.034:45:14,0:7,0:27,0:1|0:197167939_AGT_A:197167939:18,27,0,0	1|0:28,16:0.348:44:3,3:11,1:16,9:1|0:197167939_AGT_A:197167939:13,15,7,9
chr1	197181126	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,26|17,18;DP=91;ECNT=1;GERMQ=20;MBQ=20,20;MFRL=171,157;MMQ=60,60;MPOS=34;NALOD=0.309;NLOD=3.9;POPAF=2.03;RPA=11,10;RU=A;STR;STRQ=93;TLOD=27.45;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=ZBTB41;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0004;AF_raw=0.0015;AF_male=0.0004;AF_female=0.0004;AF_afr=0.0006;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0.0013;AF_fin=0.0005;AF_nfe=0.0003;AF_oth=0.0015;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs775856315;ExAC_ALL=0.2300;ExAC_AFR=0.2110;ExAC_AMR=0.2595;ExAC_EAS=0.2588;ExAC_FIN=0.1626;ExAC_NFE=0.2281;ExAC_OTH=0.1864;ExAC_SAS=0.2546;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:32,2:0.083:34:6,0:9,1:19,1:13,19,1,1	0/1:12,33:0.696:45:4,11:2,6:7,17:5,7,16,17
chr1	197328409	COSV66338927	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,23|7,7;DP=74;ECNT=1;GERMQ=39;MBQ=20,20;MFRL=205,184;MMQ=60,60;MPOS=48;NALOD=1.1;NLOD=2.99;POPAF=3.76;TLOD=10.65;AA=p.?,p.?,p.?,p.?,p.?;CDS=c.71-12del,c.71-12del,c.71-12del,c.71-12del,c.-137-12del;CNT=3,3,3,3,3;GENE=CRB1_ENST00000538660,CRB1_ENST00000638467,CRB1,CRB1_ENST00000367399,CRB1_ENST00000535699;HGVSC=ENST00000538660.5:c.71-12del,ENST00000638467.1:c.71-12del,ENST00000367400.7:c.71-12del,ENST00000367399.6:c.71-12del,ENST00000535699.5:c.-137-12del;HGVSG=1:g.197328410del,1:g.197328410del,1:g.197328410del,1:g.197328410del,1:g.197328410del;LEGACY_ID=COSN1095533,COSN1095533,COSN1095533,COSN1095533,COSN1095533;STRAND=+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CRB1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.975e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs369741574;ExAC_ALL=0.0007;ExAC_AFR=0;ExAC_AMR=0.0007;ExAC_EAS=0.0018;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0006;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.075:16:2,0:8,0:10,0:9,7,0,0	0/1:39,14:0.269:53:11,4:12,3:23,8:23,16,7,7
chr1	197511709	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=41,31|12,9;DP=95;ECNT=1;GERMQ=87;MBQ=20,20;MFRL=175,170;MMQ=60,60;MPOS=43;NALOD=1.4;NLOD=7.11;POPAF=6;RPA=9,8;RU=A;STR;STRQ=19;TLOD=16.93;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DENND1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=2.096e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs770210043;ExAC_ALL=0.0007;ExAC_AFR=0.0013;ExAC_AMR=0.0005;ExAC_EAS=0.0009;ExAC_FIN=0;ExAC_NFE=0.0007;ExAC_OTH=0;ExAC_SAS=0.0010;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.039:36:13,0:9,0:24,0:22,14,0,0	0/1:36,21:0.382:57:14,5:6,7:20,12:19,17,12,9
chr1	197772818	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,19|7,6;DP=56;ECNT=1;GERMQ=6;MBQ=20,20;MFRL=178,167;MMQ=60,60;MPOS=30;NALOD=-0.4427;NLOD=2.67;POPAF=3.13;RPA=3,2;RU=C;STR;STRQ=93;TLOD=8.66;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DENND1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.398e-05;AF_raw=6.282e-05;AF_male=1.443e-05;AF_female=1.356e-05;AF_afr=2.383e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs200977701;ExAC_ALL=0.0088;ExAC_AFR=0.0035;ExAC_AMR=0.0085;ExAC_EAS=0.0093;ExAC_FIN=0;ExAC_NFE=0.0157;ExAC_OTH=0.0132;ExAC_SAS=0.0041;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,1:0.095:30:12,1:4,0:18,1:17,12,1,0	0/1:14,12:0.466:26:2,2:5,4:7,6:7,7,6,6
chr1	197775125	.	G	GC	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=33,29|8,8;DP=80;ECNT=1;GERMQ=55;MBQ=20,20;MFRL=148,135;MMQ=60,60;MPOS=26;NALOD=1.36;NLOD=6.56;POPAF=4.61;RPA=7,8;RU=C;STR;STRQ=93;TLOD=14.39;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DENND1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q31.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.209e-05;AF_raw=4.189e-05;AF_male=4.344e-05;AF_female=4.082e-05;AF_afr=0;AF_ami=0;AF_amr=7.352e-05;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=1.555e-05;AF_oth=0.0005;AF_sas=0.0007;ALL.sites.2015_08=0.000599042;AFR.sites.2015_08=0.0015;ALL.sites.2015_08=0.000599042;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.001;avsnp150=rs559934138;ExAC_ALL=0.0035;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=.;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0067;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.042:36:8,0:13,0:22,0:19,17,0,0	0/1:26,16:0.401:42:5,7:9,0:14,9:14,12,8,8
chr1	198742063	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,24|2,1;DP=53;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=196,163;MMQ=60,60;MPOS=17;NALOD=1.26;NLOD=5.11;POPAF=6;TLOD=4.92;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PTPRC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:25,0:0.053:25:5,0:6,0:17,0:15,10,0,0	0/1:25,3:0.15:28:4,1:6,1:16,2:11,14,2,1
chr1	198742209	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,27|11,6;DP=82;ECNT=1;GERMQ=81;MBQ=20,20;MFRL=181,165;MMQ=60,60;MPOS=21;NALOD=1.41;NLOD=7.43;POPAF=6;RPA=8,7;RU=T;STR;STRQ=23;TLOD=14.93;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PTPRC;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.404e-05;AF_raw=2.794e-05;AF_male=1.451e-05;AF_female=1.361e-05;AF_afr=2.39e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.556e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs747865861;ExAC_ALL=9.093e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.037:39:13,0:11,0:25,0:21,18,0,0	0/1:20,17:0.49:37:7,5:4,6:11,11:11,9,11,6
chr1	200990679	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=62,78|23,24;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=148,147;MMQ=60,60;MPOS=45;NALOD=1.54;NLOD=10.19;POPAF=6;TLOD=96.7;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=KIF21B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KIF21B:NM_001252100:exon19:c.C2732T:p.A911V,KIF21B:NM_001252102:exon19:c.C2732T:p.A911V,KIF21B:NM_001252103:exon19:c.C2732T:p.A911V,KIF21B:NM_017596:exon19:c.C2732T:p.A911V;cytoBand=1q32.1;SIFT_score=0.054;SIFT_converted_rankscore=0.393;SIFT_pred=T;SIFT4G_score=0.32;SIFT4G_converted_rankscore=0.191;SIFT4G_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_rankscore=0.541;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.236;Polyphen2_HVAR_rankscore=0.385;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.559;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.537;MutationTaster_pred=D;MutationAssessor_score=1;MutationAssessor_rankscore=0.251;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.719;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_converted_rankscore=0.312;PROVEAN_pred=N;VEST4_score=0.381;VEST4_rankscore=0.422;MetaSVM_score=-0.701;MetaSVM_rankscore=0.604;MetaSVM_pred=T;MetaLR_score=0.216;MetaLR_rankscore=0.578;MetaLR_pred=T;MetaRNN_score=0.185;MetaRNN_rankscore=0.339;MetaRNN_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.288;M-CAP_pred=T;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=0.262;MutPred_rankscore=0.206;MVP_score=0.480;MVP_rankscore=0.476;MPC_score=0.623;MPC_rankscore=0.565;PrimateAI_score=0.725;PrimateAI_rankscore=0.708;PrimateAI_pred=T;DEOGEN2_score=0.041;DEOGEN2_rankscore=0.258;DEOGEN2_pred=T;BayesDel_addAF_score=-0.148;BayesDel_addAF_rankscore=0.286;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.269;BayesDel_noAF_rankscore=0.479;BayesDel_noAF_pred=T;ClinPred_score=0.528;ClinPred_rankscore=0.337;ClinPred_pred=D;LIST-S2_score=0.873;LIST-S2_rankscore=0.661;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.632;CADD_raw_rankscore=0.441;CADD_phred=22.7;DANN_score=0.998;DANN_rankscore=0.921;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.991;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.914;fathmm-XF_coding_rankscore=0.876;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.362;Eigen-raw_coding_rankscore=0.594;Eigen-PC-raw_coding=0.443;Eigen-PC-raw_coding_rankscore=0.643;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.706;integrated_fitCons_rankscore=0.612;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.12;GERP++_RS=5.12;GERP++_RS_rankscore=0.695;phyloP100way_vertebrate=8.046;phyloP100way_vertebrate_rankscore=0.892;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.669;phastCons30way_mammalian_rankscore=0.303;SiPhy_29way_logOdds=18.550;SiPhy_29way_logOdds_rankscore=0.910;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.094e-05;AF_raw=2.093e-05;AF_male=2.881e-05;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=9.549e-05;AF_nfe=0;AF_oth=0.0005;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs761541411;ExAC_ALL=2.477e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.505e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.028:53:13,0:18,0:34,0:22,31,0,0	0/1:87,47:0.338:134:25,12:17,12:48,24:40,47,23,24
chr1	201000623	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,34|6,6;DP=81;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=193,161;MMQ=60,60;MPOS=40;NALOD=1.45;NLOD=8.12;POPAF=6;TLOD=26.15;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIF21B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.093e-05;AF_raw=2.092e-05;AF_male=2.88e-05;AF_female=1.354e-05;AF_afr=0;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.034:37:13,0:14,0:27,0:18,19,0,0	0/1:27,12:0.309:39:10,2:6,5:17,7:12,15,6,6
chr1	201000791	COSV59763920	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,43|10,9;DP=104;ECNT=1;GERMQ=90;MBQ=20,20;MFRL=153,145;MMQ=60,60;MPOS=41;NALOD=1.45;NLOD=8.04;POPAF=4.61;TLOD=40.16;AA=p.?,p.?,p.?,p.?;CDS=c.1403-11T>C,c.1403-11T>C,c.1403-11T>C,c.1403-11T>C;CNT=1,1,1,1;GENE=KIF21B,KIF21B_ENST00000360529,KIF21B_ENST00000461742,KIF21B_ENST00000332129;HGVSC=ENST00000422435.2:c.1403-11T>C,ENST00000360529.9:c.1403-11T>C,ENST00000461742.6:c.1403-11T>C,ENST00000332129.6:c.1403-11T>C;HGVSG=1:g.201000791A>G,1:g.201000791A>G,1:g.201000791A>G,1:g.201000791A>G;LEGACY_ID=COSN19665941,COSN19665941,COSN19665941,COSN19665941;STRAND=-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KIF21B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.979e-06;AF_raw=6.975e-06;AF_male=1.44e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.549e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs747511492;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.035:42:15,0:10,0:27,0:20,22,0,0	0/1:41,19:0.353:60:13,5:8,6:21,11:20,21,10,9
chr1	201070457	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,31|3,4;DP=60;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=188,189;MMQ=60,60;MPOS=41;NALOD=1.26;NLOD=5.07;POPAF=6;TLOD=13.56;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CACNA1S;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.052:24:5,0:6,0:17,0:9,15,0,0	0/1:25,7:0.226:32:1,2:8,1:16,4:9,16,3,4
chr1	201793882	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,15|9,5;DP=65;ECNT=1;GERMQ=76;MBQ=34,35;MFRL=163,151;MMQ=60,60;MPOS=26;NALOD=1.43;NLOD=7.22;POPAF=6;TLOD=40.49;ANNOVAR_DATE=2020-06-08;Func.refGene=ncRNA_intronic;Gene.refGene=IPO9-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.036:29:10,0:13,0:24,0:20,9,0,0	0/1:14,14:0.546:28:3,6:4,3:9,11:8,6,9,5
chr1	202011294	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,51|2,2;DP=92;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=173,173;MMQ=60,60;MPOS=40;NALOD=1.36;NLOD=6.62;POPAF=6;TLOD=5.59;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ELF3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ELF3:NM_001114309:exon2:c.G158A:p.G53D,ELF3:NM_004433:exon2:c.G158A:p.G53D;cytoBand=1q32.1;SIFT_score=0.016;SIFT_converted_rankscore=0.519;SIFT_pred=D;SIFT4G_score=0.104;SIFT4G_converted_rankscore=0.382;SIFT4G_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.974;Polyphen2_HVAR_rankscore=0.732;Polyphen2_HVAR_pred=D;LRT_score=0.137;LRT_converted_rankscore=0.029;LRT_pred=N;MutationTaster_score=0.556;MutationTaster_converted_rankscore=0.313;MutationTaster_pred=N;MutationAssessor_score=2.42;MutationAssessor_rankscore=0.700;MutationAssessor_pred=M;FATHMM_score=1.55;FATHMM_converted_rankscore=0.299;FATHMM_pred=T;PROVEAN_score=-2.07;PROVEAN_converted_rankscore=0.473;PROVEAN_pred=N;VEST4_score=0.226;VEST4_rankscore=0.346;MetaSVM_score=-0.956;MetaSVM_rankscore=0.399;MetaSVM_pred=T;MetaLR_score=0.211;MetaLR_rankscore=0.572;MetaLR_pred=T;MetaRNN_score=0.321;MetaRNN_rankscore=0.494;MetaRNN_pred=T;M-CAP_score=0.038;M-CAP_rankscore=0.582;M-CAP_pred=D;REVEL_score=0.177;REVEL_rankscore=0.450;MutPred_score=0.427;MutPred_rankscore=0.473;MVP_score=0.426;MVP_rankscore=0.423;MPC_score=1.100;MPC_rankscore=0.777;PrimateAI_score=0.516;PrimateAI_rankscore=0.410;PrimateAI_pred=T;DEOGEN2_score=0.154;DEOGEN2_rankscore=0.495;DEOGEN2_pred=T;BayesDel_addAF_score=0.237;BayesDel_addAF_rankscore=0.774;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.103;BayesDel_noAF_rankscore=0.771;BayesDel_noAF_pred=D;ClinPred_score=0.960;ClinPred_rankscore=0.656;ClinPred_pred=D;LIST-S2_score=0.706;LIST-S2_rankscore=0.316;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=3.442;CADD_raw_rankscore=0.626;CADD_phred=24.5;DANN_score=0.993;DANN_rankscore=0.597;fathmm-MKL_coding_score=0.574;fathmm-MKL_coding_rankscore=0.304;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.449;fathmm-XF_coding_rankscore=0.504;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.531;Eigen-raw_coding_rankscore=0.689;Eigen-PC-raw_coding=0.502;Eigen-PC-raw_coding_rankscore=0.681;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.543;integrated_fitCons_rankscore=0.224;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.88;GERP++_RS=5.88;GERP++_RS_rankscore=0.946;phyloP100way_vertebrate=0.695;phyloP100way_vertebrate_rankscore=0.252;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=0.714;phastCons100way_vertebrate_rankscore=0.288;phastCons30way_mammalian=0.994;phastCons30way_mammalian_rankscore=0.563;SiPhy_29way_logOdds=14.846;SiPhy_29way_logOdds_rankscore=0.699;Interpro_domain=Pointed_domain|Pointed_domain|Pointed_domain\x3bPointed_domain|Pointed_domain|Pointed_domain\x3bPointed_domain|Pointed_domain|Pointed_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.042:37:16,0:5,0:22,0:16,21,0,0	0/1:50,4:0.088:54:9,0:18,2:30,2:20,30,2,2
chr1	202128149	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=99,80|2,2;DP=195;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,127;MMQ=60,60;MPOS=51;NALOD=1.75;NLOD=16.54;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=6.8;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=GPR37L1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=GPR37L1:NM_004767:exon2:c.1040delC:p.S348Afs*17;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:78,0:0.017:78:24,0:25,0:55,0:46,32,0,0	0/1:101,4:0.047:105:30,2:25,0:59,2:53,48,2,2
chr1	202152483	.	CCAGGGGG	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=23,9|1,1;DP=36;ECNT=1;GERMQ=49;MBQ=34,20;MFRL=211,141;MMQ=60,60;MPOS=22;NALOD=1.27;NLOD=5.08;POPAF=6;TLOD=7.14;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PTPN7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.051:21:10,0:5,0:17,0:16,5,0,0	0/1:11,2:0.2:13:6,0:1,1:7,1:7,4,1,1
chr1	202236762	.	T	TG	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,25|3,4;DP=63;ECNT=1;GERMQ=51;MBQ=20,20;MFRL=189,164;MMQ=60,60;MPOS=43;NALOD=1.25;NLOD=4.48;POPAF=6;RPA=6,7;RU=G;STR;STRQ=93;TLOD=5.75;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LGR6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.054:21:4,0:4,0:15,0:6,15,0,0	0/1:16,7:0.292:23:5,0:4,3:11,4:6,10,3,4
chr1	202318077	COSV55152990	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=65,65|21,20;DP=176;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,144;MMQ=60,60;MPOS=28;NALOD=1.71;NLOD=15.02;POPAF=6;TLOD=42.34;AA=p.V592Afs*10,p.V540Afs*10,p.V453Afs*10;CDS=c.1775del,c.1619del,c.1358del;CNT=5,5,5;GENE=LGR6,LGR6_ENST00000255432,LGR6_ENST00000439764;HGVSC=ENST00000367278.7:c.1775del,ENST00000255432.11:c.1619del,ENST00000439764.2:c.1358del;HGVSG=1:g.202318078del,1:g.202318078del,1:g.202318078del;HGVSP=ENSP00000356247.3:p.Val592AlafsTer10,ENSP00000255432.7:p.Val540AlafsTer10,ENSP00000387869.2:p.Val453AlafsTer10;LEGACY_ID=COSM1560333,COSM1560333,COSM1560333;STRAND=+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LGR6;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=LGR6:NM_001017404:exon16:c.1358delT:p.V453Afs*10,LGR6:NM_001017403:exon18:c.1775delT:p.V592Afs*10,LGR6:NM_021636:exon18:c.1619delT:p.V540Afs*10;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs113146160;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:81,0:0.019:81:20,0:20,0:50,0:40,41,0,0	0/1:49,41:0.459:90:11,10:14,11:26,22:25,24,21,20
chr1	202427042	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=55,48|9,8;DP=120;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,164;MMQ=60,60;MPOS=49;NALOD=1.45;NLOD=8.13;POPAF=6;TLOD=32.87;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PPP1R12B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PPP1R12B:NM_001167857:exon5:c.T704C:p.L235P,PPP1R12B:NM_001167858:exon5:c.T704C:p.L235P,PPP1R12B:NM_001331029:exon5:c.T704C:p.L235P,PPP1R12B:NM_002481:exon5:c.T704C:p.L235P;cytoBand=1q32.1;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.481;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.08;MutationAssessor_rankscore=0.873;MutationAssessor_pred=M;FATHMM_score=-0.45;FATHMM_converted_rankscore=0.699;FATHMM_pred=T;PROVEAN_score=-5.94;PROVEAN_converted_rankscore=0.891;PROVEAN_pred=D;VEST4_score=0.97;VEST4_rankscore=0.988;MetaSVM_score=0.462;MetaSVM_rankscore=0.900;MetaSVM_pred=D;MetaLR_score=0.598;MetaLR_rankscore=0.857;MetaLR_pred=D;MetaRNN_score=0.951;MetaRNN_rankscore=0.944;MetaRNN_pred=D;M-CAP_score=0.392;M-CAP_rankscore=0.932;M-CAP_pred=D;REVEL_score=0.876;REVEL_rankscore=0.964;MutPred_score=0.807;MutPred_rankscore=0.924;MVP_score=0.941;MVP_rankscore=0.941;MPC_score=0.894;MPC_rankscore=0.704;PrimateAI_score=0.873;PrimateAI_rankscore=0.929;PrimateAI_pred=D;DEOGEN2_score=0.227;DEOGEN2_rankscore=0.592;DEOGEN2_pred=T;BayesDel_addAF_score=0.384;BayesDel_addAF_rankscore=0.890;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.314;BayesDel_noAF_rankscore=0.888;BayesDel_noAF_pred=D;ClinPred_score=0.998;ClinPred_rankscore=0.942;ClinPred_pred=D;LIST-S2_score=0.966;LIST-S2_rankscore=0.878;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=4.147;CADD_raw_rankscore=0.837;CADD_phred=28.2;DANN_score=0.999;DANN_rankscore=0.974;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.988;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.960;fathmm-XF_coding_rankscore=0.980;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.831;Eigen-raw_coding_rankscore=0.880;Eigen-PC-raw_coding=0.712;Eigen-PC-raw_coding_rankscore=0.833;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.615;integrated_fitCons_rankscore=0.376;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.84;GERP++_RS=4.84;GERP++_RS_rankscore=0.621;phyloP100way_vertebrate=8.009;phyloP100way_vertebrate_rankscore=0.881;phyloP30way_mammalian=1.134;phyloP30way_mammalian_rankscore=0.584;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=14.410;SiPhy_29way_logOdds_rankscore=0.667;Interpro_domain=.\x3bAnkyrin_repeat-containing_domain|Ankyrin_repeat-containing_domain|Ankyrin_repeat-containing_domain\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.034:50:12,0:14,0:27,0:27,23,0,0	0/1:53,17:0.25:70:15,7:13,2:29,9:28,25,9,8
chr1	202438061	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=75,89|30,29;DP=243;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,151;MMQ=60,60;MPOS=49;NALOD=0.975;NLOD=12.49;POPAF=3.27;RPA=10,9;RU=T;STR;STRQ=93;TLOD=39.11;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PPP1R12B;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PPP1R12B:NM_001167857:exon10:c.1496delT:p.F502Sfs*7;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0001;AF_afr=0.0003;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.725e-05;AF_oth=0;AF_sas=0.0020;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs766745765;ExAC_ALL=0.0082;ExAC_AFR=0.0069;ExAC_AMR=0.0046;ExAC_EAS=0.0067;ExAC_FIN=0.0035;ExAC_NFE=0.0110;ExAC_OTH=0.0058;ExAC_SAS=0.0033;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:63,0:0.023:63:16,0:15,0:42,0:27,36,0,0	0/1:101,59:0.36:160:29,11:22,19:57,32:48,53,30,29
chr1	203014873	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,60|28,22;DP=190;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=170,160;MMQ=60,60;MPOS=32;NALOD=1.06;NLOD=12.68;POPAF=6;RPA=8,7;RU=T;STR;STRQ=93;TLOD=46.52;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM183A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs757239794;ExAC_ALL=0.0002;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=6.368e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:75,2:0.035:77:17,1:25,0:49,1:43,32,1,1	0/1:62,48:0.453:110:15,11:19,17:34,28:34,28,27,21
chr1	203045872	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,33|4,2;DP=80;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=158,146;MMQ=60,60;MPOS=30;NALOD=1.28;NLOD=5.37;POPAF=4.31;TLOD=12.4;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PPFIA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PPFIA4:NM_001304331:exon8:c.G890A:p.R297Q,PPFIA4:NM_001304332:exon8:c.G890A:p.R297Q;cytoBand=1q32.1;SIFT_score=0.001;SIFT_converted_rankscore=0.785;SIFT_pred=D;SIFT4G_score=0.01;SIFT4G_converted_rankscore=0.679;SIFT4G_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.001;LRT_converted_rankscore=0.409;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.13;MutationAssessor_rankscore=0.881;MutationAssessor_pred=M;FATHMM_score=-1.82;FATHMM_converted_rankscore=0.840;FATHMM_pred=D;PROVEAN_score=-3.55;PROVEAN_converted_rankscore=0.688;PROVEAN_pred=D;VEST4_score=0.826;VEST4_rankscore=0.822;MetaSVM_score=0.593;MetaSVM_rankscore=0.918;MetaSVM_pred=D;MetaLR_score=0.736;MetaLR_rankscore=0.910;MetaLR_pred=D;MetaRNN_score=0.656;MetaRNN_rankscore=0.699;MetaRNN_pred=D;M-CAP_score=0.531;M-CAP_rankscore=0.956;M-CAP_pred=D;REVEL_score=0.463;REVEL_rankscore=0.762;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.892;MVP_rankscore=0.891;MPC_score=.;MPC_rankscore=.;PrimateAI_score=0.798;PrimateAI_rankscore=0.817;PrimateAI_pred=T;DEOGEN2_score=0.089;DEOGEN2_rankscore=0.643;DEOGEN2_pred=T;BayesDel_addAF_score=-0.037;BayesDel_addAF_rankscore=0.465;BayesDel_addAF_pred=T;BayesDel_noAF_score=0.020;BayesDel_noAF_rankscore=0.716;BayesDel_noAF_pred=D;ClinPred_score=0.667;ClinPred_rankscore=0.392;ClinPred_pred=D;LIST-S2_score=0.988;LIST-S2_rankscore=0.960;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=4.467;CADD_raw_rankscore=0.909;CADD_phred=32;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_rankscore=0.813;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.917;fathmm-XF_coding_rankscore=0.885;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.539;Eigen-raw_coding_rankscore=0.694;Eigen-PC-raw_coding=0.478;Eigen-PC-raw_coding_rankscore=0.665;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.693;integrated_fitCons_rankscore=0.561;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.72;GERP++_RS=3.8;GERP++_RS_rankscore=0.429;phyloP100way_vertebrate=9.889;phyloP100way_vertebrate_rankscore=0.986;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.986;phastCons30way_mammalian_rankscore=0.501;SiPhy_29way_logOdds=12.737;SiPhy_29way_logOdds_rankscore=0.566;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.678e-05;AF_raw=7.672e-05;AF_male=5.762e-05;AF_female=9.479e-05;AF_afr=7.14e-05;AF_ami=0;AF_amr=0.0003;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=6.194e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs745574552;ExAC_ALL=0.0001;ExAC_AFR=0;ExAC_AMR=0.0008;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.54e-05;ExAC_OTH=0;ExAC_SAS=6.149e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,0:0.05:31:11,0:5,0:18,0:17,14,0,0	0/1:40,6:0.172:46:13,2:8,2:23,4:21,19,4,2
chr1	203049655	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,25|13,13;DP=78;ECNT=1;GERMQ=78;MBQ=20,20;MFRL=169,152;MMQ=60,60;MPOS=22;NALOD=1.4;NLOD=7.12;POPAF=6;RPA=4,3;RU=C;STR;STRQ=93;TLOD=32.34;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PPFIA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:35,0:0.039:35:7,0:11,0:24,0:17,18,0,0	0/1:15,26:0.595:41:2,4:6,6:10,15:8,7,13,13
chr1	203496007	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=49,39|11,11;DP=112;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,144;MMQ=60,60;MPOS=28;NALOD=1.39;NLOD=6.92;POPAF=6;TLOD=45.67;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=OPTC;GeneDetail.refGene=.;ExonicFunc.refGene=startloss;AAChange.refGene=OPTC:NM_014359:exon2:c.T2C:p.M1?;cytoBand=1q32.1;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=0.983;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.559;Polyphen2_HVAR_rankscore=0.495;Polyphen2_HVAR_pred=P;LRT_score=0.215;LRT_converted_rankscore=0.163;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.510;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.25;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-3.13;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST4_score=0.897;VEST4_rankscore=0.897;MetaSVM_score=-0.593;MetaSVM_rankscore=0.651;MetaSVM_pred=T;MetaLR_score=0.278;MetaLR_rankscore=0.650;MetaLR_pred=T;MetaRNN_score=0.978;MetaRNN_rankscore=0.976;MetaRNN_pred=D;M-CAP_score=0.257;M-CAP_rankscore=0.894;M-CAP_pred=D;REVEL_score=0.440;REVEL_rankscore=0.747;MutPred_score=0.972;MutPred_rankscore=0.997;MVP_score=0.844;MVP_rankscore=0.842;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.119;DEOGEN2_rankscore=0.475;DEOGEN2_pred=T;BayesDel_addAF_score=0.221;BayesDel_addAF_rankscore=0.759;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.080;BayesDel_noAF_rankscore=0.756;BayesDel_noAF_pred=D;ClinPred_score=0.933;ClinPred_rankscore=0.599;ClinPred_pred=D;LIST-S2_score=0.9;LIST-S2_rankscore=0.651;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=3.063;CADD_raw_rankscore=0.534;CADD_phred=23.5;DANN_score=0.972;DANN_rankscore=0.329;fathmm-MKL_coding_score=0.866;fathmm-MKL_coding_rankscore=0.459;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.031;fathmm-XF_coding_rankscore=0.033;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.211;Eigen-raw_coding_rankscore=0.518;Eigen-PC-raw_coding=0.171;Eigen-PC-raw_coding_rankscore=0.483;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.518;integrated_fitCons_score=0.615;integrated_fitCons_rankscore=0.376;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.32;GERP++_RS=3.18;GERP++_RS_rankscore=0.356;phyloP100way_vertebrate=3.983;phyloP100way_vertebrate_rankscore=0.566;phyloP30way_mammalian=1.049;phyloP30way_mammalian_rankscore=0.519;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.661;phastCons30way_mammalian_rankscore=0.301;SiPhy_29way_logOdds=8.032;SiPhy_29way_logOdds_rankscore=0.296;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.039:39:12,0:11,0:23,0:23,16,0,0	0/1:49,22:0.325:71:13,6:13,6:26,12:26,23,11,11
chr1	204149928	.	GC	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=48,51|11,13;DP=137;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=145,142;MMQ=60,60;MPOS=31;NALOD=1.5;NLOD=8.72;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=34.2;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ETNK2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ETNK2:NM_001297760:exon2:c.292delG:p.A98Pfs*77,ETNK2:NM_001297762:exon2:c.292delG:p.A98Pfs*84,ETNK2:NM_018208:exon2:c.292delG:p.A98Pfs*77;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:46,0:0.031:46:11,0:11,0:29,0:21,25,0,0	0/1:53,24:0.306:77:15,8:12,4:33,14:27,26,11,13
chr1	204259282	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=46,35|15,16;DP=116;ECNT=1;GERMQ=78;MBQ=20,20;MFRL=165,161;MMQ=60,60;MPOS=46;NALOD=1.36;NLOD=6.3;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=27.46;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PLEKHA6;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PLEKHA6:NM_014935:exon8:c.982delG:p.V328Yfs*172;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:33,0:0.042:33:10,0:9,0:21,0:20,13,0,0	0/1:48,31:0.361:79:13,10:12,5:29,16:26,22,15,16
chr1	204954904	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=81,77|24,23;DP=215;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=168,160;MMQ=60,60;MPOS=32;NALOD=1.72;NLOD=14.96;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=41.39;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=NFASC;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=NFASC:NM_001160331:exon4:c.471delC:p.P159Rfs*12,NFASC:NM_001160332:exon6:c.471delC:p.P159Rfs*12,NFASC:NM_001160333:exon6:c.471delC:p.P159Rfs*12,NFASC:NM_001365986:exon6:c.471delC:p.P159Rfs*12,NFASC:NM_001378330:exon6:c.471delC:p.P159Rfs*12,NFASC:NM_001378331:exon6:c.471delC:p.P159Rfs*12,NFASC:NM_015090:exon6:c.471delC:p.P159Rfs*12,NFASC:NM_001005388:exon7:c.489delC:p.P165Rfs*12,NFASC:NM_001005389:exon7:c.489delC:p.P165Rfs*12,NFASC:NM_001378329:exon7:c.489delC:p.P165Rfs*12;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:79,0:0.019:79:22,0:23,0:50,0:40,39,0,0	0/1:79,47:0.362:126:18,15:23,9:43,24:41,38,24,23
chr1	205147751	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,41|2,2;DP=83;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=185,157;MMQ=60,60;MPOS=29;NALOD=1.48;NLOD=8.73;POPAF=6;TLOD=6.29;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DSTYK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,0:0.032:47:14,0:11,0:29,0:21,26,0,0	0/1:26,4:0.156:30:5,1:8,1:15,2:11,15,2,2
chr1	205163021	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,44|11,10;DP=111;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,142;MMQ=60,60;MPOS=26;NALOD=1.48;NLOD=8.73;POPAF=6;TLOD=44.18;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DSTYK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.032:50:12,0:17,0:29,0:25,25,0,0	0/1:38,21:0.364:59:10,7:8,4:20,11:19,19,11,10
chr1	206593761	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,79|2,2;DP=156;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,109;MMQ=60,60;MPOS=45;NALOD=1.63;NLOD=12.32;POPAF=6;RPA=2,1;RU=C;STR;STRQ=93;TLOD=5.7;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=EIF2D;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=EIF2D:NM_001201478:exon12:c.1169delG:p.G390Vfs*61,EIF2D:NM_006893:exon14:c.1541delG:p.G514Vfs*61;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:69,0:0.023:69:16,0:20,0:41,0:33,36,0,0	0/1:74,4:0.061:78:19,2:14,0:45,2:31,43,2,2
chr1	206962641	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=4,13|1,2;DP=20;ECNT=1;GERMQ=36;MBQ=35,20;MFRL=180,160;MMQ=60,60;MPOS=18;NALOD=1;NLOD=2.71;POPAF=6;TLOD=6.86;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FCAMR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:12,0:0.091:12:3,0:4,0:9,0:3,9,0,0	0/1:5,3:0.375:8:1,1:3,1:4,2:1,4,1,2
chr1	206967096	COSV100249726	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=85,92|24,23;DP=227;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=152,144;MMQ=60,60;MPOS=41;NALOD=1.71;NLOD=15.05;POPAF=6;TLOD=101.81;AA=p.A42V,p.A42V,p.A42V;CDS=c.125C>T,c.125C>T,c.125C>T;CNT=1,1,1;GENE=FCAMR,FCAMR_ENST00000450945,FCAMR_ENST00000400962;HGVSC=ENST00000324852.8:c.125C>T,ENST00000450945.2:c.125C>T,ENST00000400962.7:c.125C>T;HGVSG=1:g.206967096G>A,1:g.206967096G>A,1:g.206967096G>A;HGVSP=ENSP00000316491.4:p.Ala42Val,ENSP00000392707.2:p.Ala42Val,ENSP00000383746.3:p.Ala42Val;LEGACY_ID=COSM7478923,COSM7478923,COSM7478923;STRAND=-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FCAMR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FCAMR:NM_001170631:exon3:c.C125T:p.A42V,FCAMR:NM_032029:exon3:c.C125T:p.A42V,FCAMR:NM_001122979:exon4:c.C125T:p.A42V;cytoBand=1q32.1;SIFT_score=0.042;SIFT_converted_rankscore=0.507;SIFT_pred=D;SIFT4G_score=0.034;SIFT4G_converted_rankscore=0.527;SIFT4G_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=2.82;FATHMM_converted_rankscore=0.109;FATHMM_pred=T;PROVEAN_score=-0.92;PROVEAN_converted_rankscore=0.249;PROVEAN_pred=N;VEST4_score=0.228;VEST4_rankscore=0.256;MetaSVM_score=-1.072;MetaSVM_rankscore=0.090;MetaSVM_pred=T;MetaLR_score=0.040;MetaLR_rankscore=0.174;MetaLR_pred=T;MetaRNN_score=0.163;MetaRNN_rankscore=0.305;MetaRNN_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.291;M-CAP_pred=T;REVEL_score=0.041;REVEL_rankscore=0.112;MutPred_score=0.24;MutPred_rankscore=0.172;MVP_score=0.474;MVP_rankscore=0.470;MPC_score=0.628;MPC_rankscore=0.569;PrimateAI_score=0.305;PrimateAI_rankscore=0.111;PrimateAI_pred=T;DEOGEN2_score=0.023;DEOGEN2_rankscore=0.174;DEOGEN2_pred=T;BayesDel_addAF_score=-0.394;BayesDel_addAF_rankscore=0.025;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.623;BayesDel_noAF_rankscore=0.110;BayesDel_noAF_pred=T;ClinPred_score=0.600;ClinPred_rankscore=0.364;ClinPred_pred=D;LIST-S2_score=0.551;LIST-S2_rankscore=0.190;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=3.458;CADD_raw_rankscore=0.630;CADD_phred=24.6;DANN_score=0.998;DANN_rankscore=0.855;fathmm-MKL_coding_score=0.484;fathmm-MKL_coding_rankscore=0.282;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.160;fathmm-XF_coding_rankscore=0.286;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.145;Eigen-raw_coding_rankscore=0.354;Eigen-PC-raw_coding=-0.223;Eigen-PC-raw_coding_rankscore=0.307;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.518;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.35;GERP++_RS=4.44;GERP++_RS_rankscore=0.532;phyloP100way_vertebrate=3.232;phyloP100way_vertebrate_rankscore=0.510;phyloP30way_mammalian=0.224;phyloP30way_mammalian_rankscore=0.249;phastCons100way_vertebrate=0.782;phastCons100way_vertebrate_rankscore=0.295;phastCons30way_mammalian=0.001;phastCons30way_mammalian_rankscore=0.051;SiPhy_29way_logOdds=9.926;SiPhy_29way_logOdds_rankscore=0.407;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs773370049;ExAC_ALL=4.256e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0002;ExAC_NFE=3.063e-05;ExAC_OTH=0;ExAC_SAS=0.0001;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:82,0:0.019:82:21,0:26,0:50,0:40,42,0,0	0/1:95,47:0.346:142:22,17:26,9:52,27:45,50,24,23
chr1	206969993	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=19,13|7,5;DP=48;ECNT=1;GERMQ=36;MBQ=20,20;MFRL=204,171;MMQ=60,60;MPOS=27;NALOD=1;NLOD=2.71;POPAF=6;TLOD=27.28;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=FCAMR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.091:14:2,0:7,0:9,0:9,5,0,0	0/1:18,12:0.421:30:6,4:4,3:10,7:10,8,7,5
chr1	207078856	.	GGGA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,7|1,1;DP=31;ECNT=2;GERMQ=50;MBQ=28,20;MFRL=191,150;MMQ=60,60;MPOS=33;NALOD=0.845;NLOD=3.61;POPAF=6;RPA=2,1;RU=GGA;STR;STRQ=93;TLOD=7.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PFKFB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:14,0:0.071:14:6,0:3,0:12,0:0|1:207078856_GGGA_G:207078856:11,3,0,0	0|1:14,2:0.152:16:3,0:6,1:10,1:0|1:207078856_GGGA_G:207078856:10,4,1,1
chr1	207078860	.	G	GTT	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,7|1,1;DP=31;ECNT=2;GERMQ=40;MBQ=34,20;MFRL=191,150;MMQ=60,60;MPOS=34;NALOD=0.845;NLOD=3.61;POPAF=6;TLOD=7.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PFKFB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:14,0:0.071:14:6,0:5,0:12,0:0|1:207078856_GGGA_G:207078856:11,3,0,0	0|1:14,2:0.152:16:4,0:6,1:10,1:0|1:207078856_GGGA_G:207078856:10,4,1,1
chr1	207564020	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,36|15,18;DP=96;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=171,143;MMQ=47,47;MPOS=34;NALOD=1.48;NLOD=8.73;POPAF=6;TLOD=76.48;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CR1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CR1:NM_000573:exon14:c.C2393A:p.P798H,CR1:NM_001381851:exon14:c.C2393A:p.P798H,CR1:NM_000651:exon22:c.C3743A:p.P1248H;cytoBand=1q32.2;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;SIFT4G_score=0.03;SIFT4G_converted_rankscore=0.542;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.974;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.779;MutationTaster_converted_rankscore=0.342;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.81;FATHMM_converted_rankscore=0.252;FATHMM_pred=T;PROVEAN_score=-2.87;PROVEAN_converted_rankscore=0.603;PROVEAN_pred=D;VEST4_score=0.145;VEST4_rankscore=0.205;MetaSVM_score=-1.038;MetaSVM_rankscore=0.178;MetaSVM_pred=T;MetaLR_score=0.079;MetaLR_rankscore=0.313;MetaLR_pred=T;MetaRNN_score=0.170;MetaRNN_rankscore=0.316;MetaRNN_pred=T;M-CAP_score=0.015;M-CAP_rankscore=0.353;M-CAP_pred=T;REVEL_score=0.120;REVEL_rankscore=0.338;MutPred_score=0.638;MutPred_rankscore=0.775;MVP_score=0.427;MVP_rankscore=0.424;MPC_score=3.400;MPC_rankscore=0.997;PrimateAI_score=0.459;PrimateAI_rankscore=0.331;PrimateAI_pred=T;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=-0.234;BayesDel_addAF_rankscore=0.161;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.574;BayesDel_noAF_rankscore=0.150;BayesDel_noAF_pred=T;ClinPred_score=0.758;ClinPred_rankscore=0.437;ClinPred_pred=D;LIST-S2_score=0.494;LIST-S2_rankscore=0.153;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.059;CADD_raw_rankscore=0.318;CADD_phred=19.70;DANN_score=0.990;DANN_rankscore=0.505;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_rankscore=0.054;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.035;fathmm-XF_coding_rankscore=0.044;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.569;Eigen-raw_coding_rankscore=0.199;Eigen-PC-raw_coding=-0.724;Eigen-PC-raw_coding_rankscore=0.164;GenoCanyon_score=0.000;GenoCanyon_rankscore=0.035;integrated_fitCons_score=0.693;integrated_fitCons_rankscore=0.561;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.03;GERP++_RS=2.03;GERP++_RS_rankscore=0.257;phyloP100way_vertebrate=-0.673;phyloP100way_vertebrate_rankscore=0.053;phyloP30way_mammalian=0.014;phyloP30way_mammalian_rankscore=0.141;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.089;phastCons30way_mammalian_rankscore=0.190;SiPhy_29way_logOdds=7.485;SiPhy_29way_logOdds_rankscore=0.266;Interpro_domain=.\x3b.\x3b.\x3bSushi/SCR/CCP_domain|Sushi/SCR/CCP_domain|Sushi/SCR/CCP_domain|Sushi/SCR/CCP_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.032:44:13,0:13,0:29,0:17,27,0,0	0/1:16,33:0.655:49:4,9:5,8:9,18:7,9,15,18
chr1	207577701	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,0|3,0;DP=16;ECNT=2;GERMQ=40;MBQ=33,36;MFRL=239,194;MMQ=60,60;MPOS=8;NALOD=1.08;NLOD=3.31;POPAF=6;TLOD=10.45;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.189e-05;AF_raw=4.185e-05;AF_male=5.761e-05;AF_female=2.71e-05;AF_afr=2.38e-05;AF_ami=0.0033;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.098e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs930413537;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.077:11:8,0:3,0:11,0:11,0,0,0	0/1:2,3:0.572:5:2,0:0,3:2,3:2,0,3,0
chr1	207577713	.	T	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,1|4,1;DP=24;ECNT=2;GERMQ=45;MBQ=36,37;MFRL=239,181;MMQ=60,60;MPOS=19;NALOD=1.16;NLOD=3.91;POPAF=6;TLOD=15.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.984e-06;AF_raw=6.977e-06;AF_male=1.441e-05;AF_female=0;AF_afr=2.382e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.065:14:9,0:4,0:13,0:13,1,0,0	0/1:3,5:0.556:8:2,1:1,3:3,4:3,0,4,1
chr1	207618049	.	TTGTG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,24|1,1;DP=65;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,138;MMQ=60,60;MPOS=12;NALOD=1.29;NLOD=5.41;POPAF=6;RPA=3,1;RU=TG;STR;STRQ=93;TLOD=6.31;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CR1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.049:27:8,0:9,0:18,0:18,9,0,0	0/1:33,2:0.095:35:12,0:5,1:18,1:18,15,1,1
chr1	207652750	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,17|6,15;DP=52;ECNT=1;GERMQ=41;MBQ=20,20;MFRL=183,167;MMQ=60,60;MPOS=35;NALOD=0.785;NLOD=4.44;POPAF=2.64;RPA=10,9;RU=T;STR;STRQ=93;TLOD=35.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CR1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.989e-05;AF_raw=0.0002;AF_male=5.905e-05;AF_female=4.133e-05;AF_afr=2.428e-05;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=3.134e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.058:24:7,0:5,0:15,0:9,15,0,0	0/1:3,21:0.846:24:1,3:0,4:2,15:1,2,6,15
chr1	207715316	COSV54323384	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=47,33|3,3;DP=87;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=170,117;MMQ=60,33;MPOS=47;NALOD=1.47;NLOD=8.43;POPAF=6;TLOD=8.48;AA=p.?;CDS=c.1415-2148T>C;CNT=9;GENE=CR1L;HGVSC=ENST00000508064.6:c.1415-2148T>C;HGVSG=1:g.207715316T>C;LEGACY_ID=COSN2531912;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CR1L;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.792e-05;AF_raw=2.79e-05;AF_male=0;AF_female=5.417e-05;AF_afr=7.139e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768485571;ExAC_ALL=0.0003;ExAC_AFR=0.0001;ExAC_AMR=0.0011;ExAC_EAS=0.0001;ExAC_FIN=0.0002;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0002;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,0:0.033:41:17,0:8,0:28,0:25,16,0,0	0/1:39,6:0.148:45:10,0:12,2:22,3:22,17,3,3
chr1	207757219	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,26|5,10;DP=64;ECNT=1;GERMQ=29;MBQ=20,20;MFRL=204,176;MMQ=60,60;MPOS=22;NALOD=1.26;NLOD=5.03;POPAF=3.27;RPA=10,9;RU=T;STR;STRQ=19;TLOD=16.64;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CD46;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=9.219e-05;AF_raw=0.0002;AF_male=8.795e-05;AF_female=9.616e-05;AF_afr=0.0002;AF_ami=0;AF_amr=0.0001;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=1.566e-05;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs771669828;ExAC_ALL=0.0044;ExAC_AFR=0.0042;ExAC_AMR=0.0014;ExAC_EAS=0.0025;ExAC_FIN=0.0003;ExAC_NFE=0.0065;ExAC_OTH=0.0062;ExAC_SAS=0.0007;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.052:23:4,0:8,0:17,0:7,16,0,0	0/1:16,15:0.485:31:3,3:4,3:11,10:6,10,5,10
chr1	208210523	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,16|3,3;DP=39;ECNT=1;GERMQ=46;MBQ=20,20;MFRL=167,139;MMQ=60,60;MPOS=13;NALOD=1.17;NLOD=3.91;POPAF=6;TLOD=12.39;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PLXNA2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.794e-05;AF_raw=2.79e-05;AF_male=1.442e-05;AF_female=4.065e-05;AF_afr=2.381e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.647e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.063:22:5,0:8,0:13,0:10,12,0,0	0/1:7,6:0.445:13:2,1:1,2:4,3:3,4,3,3
chr1	210683880	COSV55081452	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=85,81|23,26;DP=225;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,138;MMQ=60,60;MPOS=39;NALOD=1.8;NLOD=18.35;POPAF=4.61;TLOD=104.31;AA=p.R791C,p.R256C,p.R764C,p.R764C,p.R407C,p.R791C;CDS=c.2371C>T,c.766C>T,c.2290C>T,c.2290C>T,c.1219C>T,c.2371C>T;CNT=1,1,1,1,1,1;GENE=KCNH1,KCNH1_ENST00000640566,KCNH1_ENST00000367007,KCNH1_ENST00000639952,KCNH1_ENST00000640044,KCNH1_ENST00000638498;HGVSC=ENST00000271751.9:c.2371C>T,ENST00000640566.1:c.766C>T,ENST00000367007.5:c.2290C>T,ENST00000639952.1:c.2290C>T,ENST00000640044.1:c.1219C>T,ENST00000638498.1:c.2371C>T;HGVSG=1:g.210683880G>A,1:g.210683880G>A,1:g.210683880G>A,1:g.210683880G>A,1:g.210683880G>A,1:g.210683880G>A;HGVSP=ENSP00000271751.4:p.Arg791Cys,ENSP00000491302.1:p.Arg256Cys,ENSP00000355974.5:p.Arg764Cys,ENSP00000492697.1:p.Arg764Cys,ENSP00000491434.1:p.Arg407Cys,ENSP00000490983.1:p.Arg791Cys;LEGACY_ID=COSM6690851,COSM6690851,COSM6690851,COSM6690851,COSM6690851,COSM6690851;STRAND=-,-,-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=KCNH1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH1:NM_002238:exon11:c.C2290T:p.R764C,KCNH1:NM_172362:exon11:c.C2371T:p.R791C;cytoBand=1q32.2;SIFT_score=0.035;SIFT_converted_rankscore=0.450;SIFT_pred=D;SIFT4G_score=0.05;SIFT4G_converted_rankscore=0.481;SIFT4G_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.099;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.069;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.438;MutationTaster_pred=D;MutationAssessor_score=0.69;MutationAssessor_rankscore=0.170;MutationAssessor_pred=N;FATHMM_score=-5.22;FATHMM_converted_rankscore=0.989;FATHMM_pred=D;PROVEAN_score=-1.43;PROVEAN_converted_rankscore=0.352;PROVEAN_pred=N;VEST4_score=0.604;VEST4_rankscore=0.622;MetaSVM_score=0.682;MetaSVM_rankscore=0.930;MetaSVM_pred=D;MetaLR_score=0.842;MetaLR_rankscore=0.947;MetaLR_pred=D;MetaRNN_score=0.330;MetaRNN_rankscore=0.503;MetaRNN_pred=T;M-CAP_score=0.255;M-CAP_rankscore=0.893;M-CAP_pred=D;REVEL_score=0.591;REVEL_rankscore=0.839;MutPred_score=0.371;MutPred_rankscore=0.382;MVP_score=0.906;MVP_rankscore=0.905;MPC_score=0.421;MPC_rankscore=0.426;PrimateAI_score=0.522;PrimateAI_rankscore=0.419;PrimateAI_pred=T;DEOGEN2_score=0.294;DEOGEN2_rankscore=0.667;DEOGEN2_pred=T;BayesDel_addAF_score=0.183;BayesDel_addAF_rankscore=0.723;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.025;BayesDel_noAF_rankscore=0.719;BayesDel_noAF_pred=D;ClinPred_score=0.570;ClinPred_rankscore=0.352;ClinPred_pred=D;LIST-S2_score=0.982;LIST-S2_rankscore=0.941;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=2.864;CADD_raw_rankscore=0.491;CADD_phred=23.1;DANN_score=0.997;DANN_rankscore=0.784;fathmm-MKL_coding_score=0.760;fathmm-MKL_coding_rankscore=0.373;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.207;fathmm-XF_coding_rankscore=0.333;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.157;Eigen-raw_coding_rankscore=0.349;Eigen-PC-raw_coding=-0.123;Eigen-PC-raw_coding_rankscore=0.345;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.560;integrated_fitCons_rankscore=0.307;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.77;GERP++_RS=3.79;GERP++_RS_rankscore=0.428;phyloP100way_vertebrate=3.000;phyloP100way_vertebrate_rankscore=0.492;phyloP30way_mammalian=0.184;phyloP30way_mammalian_rankscore=0.216;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.413;phastCons30way_mammalian=0.098;phastCons30way_mammalian_rankscore=0.193;SiPhy_29way_logOdds=6.575;SiPhy_29way_logOdds_rankscore=0.218;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.978e-06;AF_raw=6.975e-06;AF_male=1.44e-05;AF_female=0;AF_afr=2.378e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768204088;ExAC_ALL=8.262e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.503e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:92,0:0.016:92:24,0:32,0:61,0:46,46,0,0	0/1:74,49:0.386:123:19,16:20,9:42,26:39,35,23,26
chr1	211107399	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,24|6,6;DP=56;ECNT=2;GERMQ=32;MBQ=20,20;MFRL=172,171;MMQ=60,60;MPOS=37;NALOD=1.19;NLOD=4.16;POPAF=4.01;RPA=6,5;RU=A;STR;STRQ=93;TLOD=15.11;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=KCNH1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.43e-05;AF_raw=2.115e-05;AF_male=0;AF_female=2.765e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.14e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.061:23:3,0:6,0:14,0:10,13,0,0	0/1:18,12:0.402:30:5,5:1,1:11,7:7,11,6,6
chr1	211271224	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=69,65|17,15;DP=171;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=161,158;MMQ=60,60;MPOS=49;NALOD=1.66;NLOD=13.43;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=30.02;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RCOR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:77,0:0.021:77:24,0:16,0:45,0:40,37,0,0	0/1:57,32:0.366:89:14,5:15,11:30,17:29,28,17,15
chr1	211278164	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=71,70|26,24;DP=202;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=153,157;MMQ=60,60;MPOS=33;NALOD=1.65;NLOD=12.6;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=41.21;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=RCOR3;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=RCOR3:NM_018254:exon5:c.391delA:p.T133Lfs*7,RCOR3:NM_001136223:exon6:c.565delA:p.T191Lfs*7,RCOR3:NM_001136224:exon6:c.565delA:p.T191Lfs*7,RCOR3:NM_001136225:exon6:c.565delA:p.T191Lfs*7,RCOR3:NM_001350069:exon7:c.661delA:p.T223Lfs*7,RCOR3:NM_001350070:exon7:c.202delA:p.T70Lfs*7;cytoBand=1q32.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.992e-06;AF_raw=6.979e-06;AF_male=1.443e-05;AF_female=0;AF_afr=2.384e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:62,0:0.022:62:23,0:14,0:42,0:32,30,0,0	0/1:79,50:0.384:129:20,14:19,10:42,26:39,40,26,24
chr1	212044602	.	GAAAAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=16,10|12,8;DP=49;ECNT=1;GERMQ=25;MBQ=20,20;MFRL=190,160;MMQ=60,60;MPOS=32;NALOD=0.646;NLOD=3.89;POPAF=4.31;RPA=16,11;RU=A;STR;STRQ=93;TLOD=65.16;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DTL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.279e-05;AF_raw=3.813e-05;AF_male=5.454e-05;AF_female=3.233e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=7.188e-05;AF_oth=0;AF_sas=0.0005;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:21,0:0.064:21:5,0:8,0:13,0:13,8,0,0	0/1:5,20:0.778:25:2,8:1,4:3,12:3,2,12,8
chr1	212626050	COSV54236274	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,73|24,22;DP=194;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=159,168;MMQ=60,60;MPOS=36;NALOD=1.68;NLOD=13.84;POPAF=6;TLOD=102.27;AA=p.A391%3D;CDS=c.1173G>A;CNT=1;GENE=FAM71A;HGVSC=ENST00000294829.4:c.1173G>A;HGVSG=1:g.212626050G>A;HGVSP=ENSP00000294829.3:p.Ala391%3D;LEGACY_ID=COSM5441034;STRAND=+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=FAM71A;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FAM71A:NM_153606:exon1:c.G1173A:p.A391A;cytoBand=1q32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.977e-06;AF_raw=6.974e-06;AF_male=1.44e-05;AF_female=0;AF_afr=2.378e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs767726811;ExAC_ALL=8.275e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.505e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:64,0:0.021:64:22,0:21,0:46,0:33,31,0,0	0/1:81,46:0.368:127:25,11:21,14:47,27:39,42,24,22
chr1	212972690	COSV99663249	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=89,91|28,31;DP=246;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,146;MMQ=60,60;MPOS=37;NALOD=1.65;NLOD=12.94;POPAF=6;TLOD=121.88;AA=p.R99H,p.R159H,p.R138H,p.R138H,p.R203H;CDS=c.296G>A,c.476G>A,c.413G>A,c.413G>A,c.608G>A;CNT=1,1,1,1,1;GENE=VASH2_ENST00000366967,VASH2_ENST00000366965,VASH2_ENST00000366966,VASH2_ENST00000366968,VASH2;HGVSC=ENST00000366967.6:c.296G>A,ENST00000366965.6:c.476G>A,ENST00000366966.6:c.413G>A,ENST00000366968.8:c.413G>A,ENST00000517399.2:c.608G>A;HGVSG=1:g.212972690G>A,1:g.212972690G>A,1:g.212972690G>A,1:g.212972690G>A,1:g.212972690G>A;HGVSP=ENSP00000429040.1:p.Arg99His,ENSP00000355932.2:p.Arg159His,ENSP00000430319.1:p.Arg138His,ENSP00000355935.4:p.Arg138His,ENSP00000428324.1:p.Arg203His;LEGACY_ID=COSM8274697,COSM8274697,COSM8274697,COSM8274697,COSM8274697;STRAND=+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=VASH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=VASH2:NM_024749:exon4:c.G476A:p.R159H,VASH2:NM_001136475:exon5:c.G296A:p.R99H,VASH2:NM_001301056:exon6:c.G608A:p.R203H,VASH2:NM_001136474:exon7:c.G413A:p.R138H;cytoBand=1q32.3;SIFT_score=0.264;SIFT_converted_rankscore=0.166;SIFT_pred=T;SIFT4G_score=0.174;SIFT4G_converted_rankscore=0.301;SIFT4G_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.142;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.069;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_converted_rankscore=0.276;LRT_pred=N;MutationTaster_score=0.798;MutationTaster_converted_rankscore=0.345;MutationTaster_pred=D;MutationAssessor_score=1.525;MutationAssessor_rankscore=0.386;MutationAssessor_pred=L;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=-1.53;PROVEAN_converted_rankscore=0.385;PROVEAN_pred=N;VEST4_score=0.268;VEST4_rankscore=0.371;MetaSVM_score=-1.049;MetaSVM_rankscore=0.146;MetaSVM_pred=T;MetaLR_score=0.109;MetaLR_rankscore=0.394;MetaLR_pred=T;MetaRNN_score=0.054;MetaRNN_rankscore=0.058;MetaRNN_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.113;M-CAP_pred=T;REVEL_score=0.056;REVEL_rankscore=0.164;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.043;MVP_rankscore=0.032;MPC_score=0.389;MPC_rankscore=0.402;PrimateAI_score=0.418;PrimateAI_rankscore=0.276;PrimateAI_pred=T;DEOGEN2_score=0.199;DEOGEN2_rankscore=0.556;DEOGEN2_pred=T;BayesDel_addAF_score=-0.382;BayesDel_addAF_rankscore=0.030;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.471;BayesDel_noAF_rankscore=0.254;BayesDel_noAF_pred=T;ClinPred_score=0.042;ClinPred_rankscore=0.040;ClinPred_pred=T;LIST-S2_score=0.820;LIST-S2_rankscore=0.487;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=1.574;CADD_raw_rankscore=0.230;CADD_phred=16.21;DANN_score=0.916;DANN_rankscore=0.209;fathmm-MKL_coding_score=0.779;fathmm-MKL_coding_rankscore=0.384;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.373;fathmm-XF_coding_rankscore=0.459;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.914;Eigen-raw_coding_rankscore=0.105;Eigen-PC-raw_coding=-0.850;Eigen-PC-raw_coding_rankscore=0.133;GenoCanyon_score=0.996;GenoCanyon_rankscore=0.344;integrated_fitCons_score=0.672;integrated_fitCons_rankscore=0.526;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.26;GERP++_RS=-1.98;GERP++_RS_rankscore=0.071;phyloP100way_vertebrate=2.961;phyloP100way_vertebrate_rankscore=0.489;phyloP30way_mammalian=-1.590;phyloP30way_mammalian_rankscore=0.011;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.657;phastCons30way_mammalian_rankscore=0.300;SiPhy_29way_logOdds=10.559;SiPhy_29way_logOdds_rankscore=0.443;Interpro_domain=.\x3b.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.094e-05;AF_raw=2.092e-05;AF_male=1.44e-05;AF_female=2.708e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0.0007;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=0.001;avsnp150=rs150945050;ExAC_ALL=6.589e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0005;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:73,0:0.022:73:17,0:23,0:43,0:36,37,0,0	0/1:107,59:0.348:166:24,15:32,14:59,31:53,54,28,31
chr1	213272512	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,30|8,9;DP=99;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,158;MMQ=60,60;MPOS=27;NALOD=1.45;NLOD=8.12;POPAF=6;TLOD=38.04;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=RPS6KC1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.3;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.034:40:15,0:10,0:27,0:25,15,0,0	0/1:33,17:0.366:50:10,3:8,6:18,10:18,15,8,9
chr1	214384111	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=78,84|22,20;DP=206;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=157,145;MMQ=60,60;MPOS=45;NALOD=1.73;NLOD=15.65;POPAF=6;TLOD=98.12;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=PTPN14;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PTPN14:NM_005401:exon13:c.C1744A:p.L582M;cytoBand=1q32.3;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.779;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.996;Polyphen2_HVAR_rankscore=0.845;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.39;MutationAssessor_rankscore=0.689;MutationAssessor_pred=M;FATHMM_score=-2.02;FATHMM_converted_rankscore=0.855;FATHMM_pred=D;PROVEAN_score=-1.54;PROVEAN_converted_rankscore=0.374;PROVEAN_pred=N;VEST4_score=0.636;VEST4_rankscore=0.649;MetaSVM_score=0.521;MetaSVM_rankscore=0.908;MetaSVM_pred=D;MetaLR_score=0.726;MetaLR_rankscore=0.906;MetaLR_pred=D;MetaRNN_score=0.613;MetaRNN_rankscore=0.675;MetaRNN_pred=D;M-CAP_score=0.051;M-CAP_rankscore=0.644;M-CAP_pred=D;REVEL_score=0.470;REVEL_rankscore=0.767;MutPred_score=0.217;MutPred_rankscore=0.138;MVP_score=0.766;MVP_rankscore=0.764;MPC_score=1.011;MPC_rankscore=0.748;PrimateAI_score=0.663;PrimateAI_rankscore=0.618;PrimateAI_pred=T;DEOGEN2_score=0.518;DEOGEN2_rankscore=0.831;DEOGEN2_pred=D;BayesDel_addAF_score=0.138;BayesDel_addAF_rankscore=0.681;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.040;BayesDel_noAF_rankscore=0.677;BayesDel_noAF_pred=D;ClinPred_score=0.969;ClinPred_rankscore=0.683;ClinPred_pred=D;LIST-S2_score=0.889;LIST-S2_rankscore=0.618;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.953;CADD_raw_rankscore=0.770;CADD_phred=26.7;DANN_score=0.996;DANN_rankscore=0.762;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.865;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.797;fathmm-XF_coding_rankscore=0.724;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.860;Eigen-raw_coding_rankscore=0.897;Eigen-PC-raw_coding=0.840;Eigen-PC-raw_coding_rankscore=0.924;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.563;integrated_fitCons_rankscore=0.315;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.79;GERP++_RS=5.79;GERP++_RS_rankscore=0.918;phyloP100way_vertebrate=6.757;phyloP100way_vertebrate_rankscore=0.747;phyloP30way_mammalian=1.176;phyloP30way_mammalian_rankscore=0.789;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.994;phastCons30way_mammalian_rankscore=0.563;SiPhy_29way_logOdds=10.432;SiPhy_29way_logOdds_rankscore=0.436;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:82,0:0.018:82:31,0:16,0:52,0:38,44,0,0	0/1:80,42:0.356:122:25,10:20,13:46,25:40,40,22,20
chr1	214532385	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,27|10,10;DP=77;ECNT=1;GERMQ=72;MBQ=20,20;MFRL=186,146;MMQ=60,60;MPOS=40;NALOD=1.35;NLOD=6.31;POPAF=6;RPA=5,4;RU=G;STR;STRQ=93;TLOD=22.08;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PTPN14;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.043:29:7,0:9,0:21,0:14,15,0,0	0/1:27,20:0.428:47:9,5:6,5:15,11:15,12,10,10
chr1	214870367	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=17,3|3,0;DP=23;ECNT=1;GERMQ=7;MBQ=36,34;MFRL=215,210;MMQ=44,60;MPOS=47;NALOD=1;NLOD=2.71;POPAF=2.61;TLOD=8.33;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=CENPF\x3bKCNK2;GeneDetail.refGene=dist\x3d205796\x3bdist\x3d135175;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0011;AF_raw=0.0041;AF_male=0.0010;AF_female=0.0013;AF_afr=0.0034;AF_ami=0;AF_amr=0.0006;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.468e-05;AF_oth=0.0021;AF_sas=0.0004;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs866972305;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:11,0:0.091:11:5,0:4,0:9,0:9,2,0,0	0/1:9,3:0.308:12:4,1:3,2:8,3:8,1,3,0
chr1	215083329	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=77,79|26,25;DP=221;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,167;MMQ=60,60;MPOS=36;NALOD=1.65;NLOD=12.56;POPAF=6;RPA=8,7;RU=A;STR;STRQ=93;TLOD=44.41;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=KCNK2;GeneDetail.refGene=NM_001017425:c.-56del-;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=6.983e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:70,0:0.022:70:18,0:23,0:42,0:34,36,0,0	0/1:86,51:0.369:137:23,13:26,16:50,29:43,43,26,25
chr1	215779823	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=24,12|7,7;DP=54;ECNT=2;GERMQ=23;MBQ=20,20;MFRL=184,128;MMQ=60,60;MPOS=20;NALOD=1.18;NLOD=4.2;POPAF=3.35;RPA=9,8;RU=T;STR;STRQ=9;TLOD=9.37;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USH2A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0001;AF_raw=0.0001;AF_male=0.0001;AF_female=0.0001;AF_afr=0.0003;AF_ami=0;AF_amr=7.4e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.112e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs751350899;ExAC_ALL=0.0021;ExAC_AFR=0.0020;ExAC_AMR=0.0011;ExAC_EAS=0.0014;ExAC_FIN=0.0003;ExAC_NFE=0.0029;ExAC_OTH=0.0012;ExAC_SAS=0.0005;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.063:18:6,0:8,0:14,0:13,5,0,0	0/1:18,14:0.395:32:7,4:4,3:11,7:11,7,7,7
chr1	215779891	.	C	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=75,55|15,13;DP=161;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=153,149;MMQ=60,60;MPOS=46;NALOD=1.53;NLOD=9.93;POPAF=6;TLOD=56.43;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=USH2A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=USH2A:NM_206933:exon55:c.G10891T:p.G3631C;cytoBand=1q41;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_rankscore=0.974;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=3.12;MutationAssessor_rankscore=0.879;MutationAssessor_pred=M;FATHMM_score=0.2;FATHMM_converted_rankscore=0.601;FATHMM_pred=T;PROVEAN_score=-4.64;PROVEAN_converted_rankscore=0.793;PROVEAN_pred=D;VEST4_score=0.724;VEST4_rankscore=0.726;MetaSVM_score=0.054;MetaSVM_rankscore=0.833;MetaSVM_pred=D;MetaLR_score=0.457;MetaLR_rankscore=0.789;MetaLR_pred=T;MetaRNN_score=0.875;MetaRNN_rankscore=0.868;MetaRNN_pred=D;M-CAP_score=0.373;M-CAP_rankscore=0.928;M-CAP_pred=D;REVEL_score=0.515;REVEL_rankscore=0.795;MutPred_score=0.668;MutPred_rankscore=0.806;MVP_score=0.968;MVP_rankscore=0.968;MPC_score=0.243;MPC_rankscore=0.268;PrimateAI_score=0.513;PrimateAI_rankscore=0.407;PrimateAI_pred=T;DEOGEN2_score=0.444;DEOGEN2_rankscore=0.787;DEOGEN2_pred=T;BayesDel_addAF_score=0.149;BayesDel_addAF_rankscore=0.691;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.024;BayesDel_noAF_rankscore=0.687;BayesDel_noAF_pred=D;ClinPred_score=0.998;ClinPred_rankscore=0.936;ClinPred_pred=D;LIST-S2_score=0.803;LIST-S2_rankscore=0.450;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.592;CADD_raw_rankscore=0.665;CADD_phred=25.0;DANN_score=0.996;DANN_rankscore=0.720;fathmm-MKL_coding_score=0.967;fathmm-MKL_coding_rankscore=0.706;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.714;fathmm-XF_coding_rankscore=0.667;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.743;Eigen-raw_coding_rankscore=0.824;Eigen-PC-raw_coding=0.668;Eigen-PC-raw_coding_rankscore=0.800;GenoCanyon_score=0.989;GenoCanyon_rankscore=0.318;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.9;GERP++_RS=4.99;GERP++_RS_rankscore=0.659;phyloP100way_vertebrate=4.463;phyloP100way_vertebrate_rankscore=0.599;phyloP30way_mammalian=1.026;phyloP30way_mammalian_rankscore=0.459;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.427;phastCons30way_mammalian=0.998;phastCons30way_mammalian_rankscore=0.659;SiPhy_29way_logOdds=14.928;SiPhy_29way_logOdds_rankscore=0.705;Interpro_domain=Fibronectin_type_III|Fibronectin_type_III|Fibronectin_type_III|Fibronectin_type_III;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.029:50:12,0:19,0:33,0:30,20,0,0	0/1:80,28:0.258:108:25,9:20,6:45,15:45,35,15,13
chr1	216200134	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=9,17|8,8;DP=55;ECNT=1;GERMQ=42;MBQ=20,20;MFRL=159,158;MMQ=60,60;MPOS=42;NALOD=0.646;NLOD=3.9;POPAF=6;RPA=12,10;RU=A;STR;STRQ=93;TLOD=11.63;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USH2A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=4.575e-05;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs776978252;ExAC_ALL=0.0002;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0009;ExAC_FIN=0;ExAC_NFE=0.0003;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:20,0:0.064:20:3,0:7,0:13,0:7,13,0,0	0/1:6,16:0.645:22:0,6:2,2:4,8:2,4,8,8
chr1	216201690	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=31,35|13,12;DP=92;ECNT=1;GERMQ=77;MBQ=20,20;MFRL=187,152;MMQ=60,60;MPOS=37;NALOD=1.38;NLOD=7.34;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=24.3;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=USH2A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:47,1:0.04:48:15,0:7,1:27,1:22,25,1,0	0/1:19,24:0.517:43:4,5:5,7:12,13:9,10,12,12
chr1	218346678	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,21|8,8;DP=79;ECNT=1;GERMQ=65;MBQ=20,20;MFRL=175,149;MMQ=60,60;MPOS=38;NALOD=1.44;NLOD=7.79;POPAF=3.83;RPA=8,7;RU=T;STR;STRQ=14;TLOD=11.27;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=TGFB2;GeneDetail.refGene=NM_001135599:c.-23del-\x3bNM_003238:c.-23del-;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0002;AF_male=0.0002;AF_female=0.0003;AF_afr=0.0008;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs748018397;ExAC_ALL=0.0001;ExAC_AFR=0.0012;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=6.894e-05;ExAC_OTH=0;ExAC_SAS=6.495e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.035:38:11,0:14,0:26,0:25,13,0,0	0/1:22,16:0.372:38:7,3:7,5:14,8:14,8,8,8
chr1	219210662	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,29|6,10;DP=80;ECNT=1;GERMQ=61;MBQ=20,20;MFRL=162,183;MMQ=60,60;MPOS=54;NALOD=1.27;NLOD=4.75;POPAF=6;RPA=9,8;RU=A;STR;STRQ=6;TLOD=16.92;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LYPLAL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.049e-06;AF_raw=4.199e-05;AF_male=0;AF_female=1.366e-05;AF_afr=2.404e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768936460;ExAC_ALL=0.0005;ExAC_AFR=0.0002;ExAC_AMR=0.0002;ExAC_EAS=0.0003;ExAC_FIN=0.0002;ExAC_NFE=0.0006;ExAC_OTH=0;ExAC_SAS=0.0009;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:22,0:0.052:22:7,0:5,0:16,0:9,13,0,0	0/1:27,16:0.394:43:7,3:6,3:16,10:11,16,6,10
chr1	220032351	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,9|10,6;DP=40;ECNT=1;GERMQ=13;MBQ=20,20;MFRL=185,169;MMQ=60,60;MPOS=27;NALOD=1.12;NLOD=3.53;POPAF=2.4;RPA=11,10;RU=T;STR;STRQ=64;TLOD=14.61;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EPRS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0006;AF_male=0.0002;AF_female=0.0002;AF_afr=0.0002;AF_ami=0;AF_amr=8.197e-05;AF_asj=0;AF_eas=0;AF_fin=0.0006;AF_nfe=0.0003;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs750691842;ExAC_ALL=0.1041;ExAC_AFR=0.0357;ExAC_AMR=0.0983;ExAC_EAS=0.0704;ExAC_FIN=0.0988;ExAC_NFE=0.1331;ExAC_OTH=0.1038;ExAC_SAS=0.0829;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.07:15:7,0:4,0:12,0:9,6,0,0	0/1:5,16:0.748:21:1,6:1,3:3,10:2,3,10,6
chr1	220040131	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=20,9|9,7;DP=46;ECNT=1;GERMQ=47;MBQ=20,20;MFRL=201,172;MMQ=60,60;MPOS=16;NALOD=0.913;NLOD=4.19;POPAF=6;RPA=8,7;RU=A;STR;STRQ=42;TLOD=17.56;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=EPRS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.02e-06;AF_raw=6.987e-06;AF_male=0;AF_female=1.361e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.554e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:19,0:0.061:19:6,0:8,0:14,0:14,5,0,0	0/1:10,16:0.596:26:1,5:2,4:6,9:6,4,9,7
chr1	220110770	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=30,22|20,16;DP=92;ECNT=1;GERMQ=4;MBQ=20,20;MFRL=162,183;MMQ=60,60;MPOS=32;NALOD=-0.3864;NLOD=4.05;POPAF=1.46;RPA=11,10;RU=T;STR;STRQ=93;TLOD=28.58;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=IARS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0359;AF_raw=0.0357;AF_male=0.0354;AF_female=0.0363;AF_afr=0.0796;AF_ami=0.0326;AF_amr=0.0265;AF_asj=0.0019;AF_eas=0.1049;AF_fin=0.0051;AF_nfe=0.0120;AF_oth=0.0367;AF_sas=0.0419;ALL.sites.2015_08=0.0828674;AFR.sites.2015_08=0.1225;ALL.sites.2015_08=0.0828674;EUR.sites.2015_08=0.0268;AMR.sites.2015_08=0.0346;EUR.sites.2015_08=0.0268;EAS.sites.2015_08=0.1101;SAS.sites.2015_08=0.093;avsnp150=rs199649609;ExAC_ALL=0.1209;ExAC_AFR=0.1807;ExAC_AMR=0.1083;ExAC_EAS=0.2192;ExAC_FIN=0.0498;ExAC_NFE=0.1004;ExAC_OTH=0.1105;ExAC_SAS=0.1498;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:31,2:0.079:33:12,1:10,1:23,2:19,12,2,0	0/1:21,34:0.624:55:6,10:5,8:11,19:11,10,18,16
chr1	220618318	.	CCTT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,29|15,13;DP=103;ECNT=1;GERMQ=74;MBQ=20,20;MFRL=171,148;MMQ=60,60;MPOS=35;NALOD=1.44;NLOD=7.82;POPAF=6;TLOD=89.87;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=MARK1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=MARK1:NM_001286128:exon7:c.496_498del:p.L168del,MARK1:NM_001286124:exon8:c.562_564del:p.L190del,MARK1:NM_001286126:exon8:c.562_564del:p.L190del,MARK1:NM_018650:exon8:c.562_564del:p.L190del;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.035:38:14,0:9,0:26,0:25,13,0,0	0/1:35,28:0.444:63:13,10:5,5:19,15:19,16,15,13
chr1	221292777	.	TA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,22|3,5;DP=49;ECNT=1;GERMQ=51;MBQ=20,20;MFRL=178,165;MMQ=60,60;MPOS=38;NALOD=1.09;NLOD=3.29;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=8.36;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=HLX\x3bLINC02817;GeneDetail.refGene=dist\x3d407720\x3bdist\x3d37150;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:18,0:0.075:18:3,0:4,0:11,0:7,11,0,0	0/1:19,8:0.315:27:1,0:7,3:12,5:8,11,3,5
chr1	222538228	.	GTGTGTGTGTGTGTGTGTGTGTA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=25,27|8,8;DP=69;ECNT=2;GERMQ=42;MBQ=20,20;MFRL=150,197;MMQ=60,60;MPOS=43;NALOD=0.978;NLOD=5.11;POPAF=6;TLOD=7.36;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=HHIPL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:25,0:0.053:25:6,0:7,0:17,0:1|0:222538226_GTGTGTGTGTGTGTGTGTGTGTGTA_G:222538226:12,13,0,0	1|0:27,16:0.375:43:4,0:3,3:14,8:1|0:222538226_GTGTGTGTGTGTGTGTGTGTGTGTA_G:222538226:13,14,8,8
chr1	222543957	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=64,62|7,8;DP=144;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=171,172;MMQ=60,60;MPOS=20;NALOD=1.54;NLOD=10.23;POPAF=6;TLOD=28.48;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=HHIPL2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HHIPL2:NM_024746:exon2:c.T554C:p.L185P;cytoBand=1q41;SIFT_score=0.002;SIFT_converted_rankscore=0.722;SIFT_pred=D;SIFT4G_score=0.001;SIFT4G_converted_rankscore=0.834;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.995;Polyphen2_HVAR_rankscore=0.832;Polyphen2_HVAR_pred=D;LRT_score=0.001;LRT_converted_rankscore=0.418;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.2;MutationAssessor_rankscore=0.891;MutationAssessor_pred=M;FATHMM_score=1.24;FATHMM_converted_rankscore=0.367;FATHMM_pred=T;PROVEAN_score=-5.74;PROVEAN_converted_rankscore=0.877;PROVEAN_pred=D;VEST4_score=0.902;VEST4_rankscore=0.903;MetaSVM_score=-0.595;MetaSVM_rankscore=0.650;MetaSVM_pred=T;MetaLR_score=0.251;MetaLR_rankscore=0.621;MetaLR_pred=T;MetaRNN_score=0.921;MetaRNN_rankscore=0.915;MetaRNN_pred=D;M-CAP_score=0.066;M-CAP_rankscore=0.699;M-CAP_pred=D;REVEL_score=0.442;REVEL_rankscore=0.748;MutPred_score=0.718;MutPred_rankscore=0.853;MVP_score=0.327;MVP_rankscore=0.324;MPC_score=0.907;MPC_rankscore=0.709;PrimateAI_score=0.601;PrimateAI_rankscore=0.530;PrimateAI_pred=T;DEOGEN2_score=0.027;DEOGEN2_rankscore=0.197;DEOGEN2_pred=T;BayesDel_addAF_score=0.278;BayesDel_addAF_rankscore=0.811;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.161;BayesDel_noAF_rankscore=0.809;BayesDel_noAF_pred=D;ClinPred_score=0.992;ClinPred_rankscore=0.830;ClinPred_pred=D;LIST-S2_score=0.798;LIST-S2_rankscore=0.442;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.771;CADD_raw_rankscore=0.713;CADD_phred=25.7;DANN_score=0.999;DANN_rankscore=0.961;fathmm-MKL_coding_score=0.955;fathmm-MKL_coding_rankscore=0.651;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.931;fathmm-XF_coding_rankscore=0.918;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.602;Eigen-raw_coding_rankscore=0.733;Eigen-PC-raw_coding=0.504;Eigen-PC-raw_coding_rankscore=0.683;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.526;integrated_fitCons_rankscore=0.218;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.47;GERP++_RS=4.31;GERP++_RS_rankscore=0.507;phyloP100way_vertebrate=6.930;phyloP100way_vertebrate_rankscore=0.757;phyloP30way_mammalian=1.199;phyloP30way_mammalian_rankscore=0.843;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.990;phastCons30way_mammalian_rankscore=0.524;SiPhy_29way_logOdds=12.108;SiPhy_29way_logOdds_rankscore=0.531;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.028:53:15,0:18,0:34,0:29,24,0,0	0/1:73,15:0.2:88:22,5:20,5:43,10:35,38,7,8
chr1	222579708	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=15,8|12,6;DP=43;ECNT=1;GERMQ=13;MBQ=20,20;MFRL=178,164;MMQ=60,60;MPOS=34;NALOD=1.08;NLOD=3.29;POPAF=2.99;RPA=10,9;RU=A;STR;STRQ=66;TLOD=21.14;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TAF1A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.917e-05;AF_raw=0.0001;AF_male=1.516e-05;AF_female=4.214e-05;AF_afr=2.481e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=4.772e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs767821116;ExAC_ALL=0.0079;ExAC_AFR=0.0059;ExAC_AMR=0.0025;ExAC_EAS=0.0059;ExAC_FIN=0.0005;ExAC_NFE=0.0113;ExAC_OTH=0.0088;ExAC_SAS=0.0028;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:15,0:0.077:15:1,0:9,0:11,0:10,5,0,0	0/1:8,18:0.684:26:3,5:2,7:5,12:5,3,12,6
chr1	222713526	.	G	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,26|2,1;DP=56;ECNT=1;GERMQ=93;MBQ=35,20;MFRL=205,149;MMQ=60,60;MPOS=12;NALOD=1.36;NLOD=6.62;POPAF=6;TLOD=4.98;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=BROX;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:29,0:0.042:29:10,0:12,0:22,0:15,14,0,0	0/1:24,3:0.125:27:14,0:5,2:20,2:12,12,2,1
chr1	222731527	.	GT	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=13,27|16,20;DP=95;ECNT=1;GERMQ=21;MBQ=20,20;MFRL=188,162;MMQ=60,60;MPOS=45;NALOD=-0.4499;NLOD=3.63;POPAF=2.01;RPA=11,10;RU=T;STR;STRQ=93;TLOD=38.18;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=BROX;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0087;AF_raw=0.0088;AF_male=0.0082;AF_female=0.0091;AF_afr=0.0281;AF_ami=0;AF_amr=0.0017;AF_asj=0;AF_eas=0.0010;AF_fin=0.0003;AF_nfe=0.0002;AF_oth=0.0059;AF_sas=0.0003;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs200721598;ExAC_ALL=0.0616;ExAC_AFR=0.0910;ExAC_AMR=0.0531;ExAC_EAS=0.0618;ExAC_FIN=0.0296;ExAC_NFE=0.0616;ExAC_OTH=0.0540;ExAC_SAS=0.0633;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,1:0.082:29:4,0:6,1:21,1:7,21,1,0	0/1:12,35:0.741:47:3,5:4,12:7,20:6,6,15,20
chr1	222994863	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=40,37|20,20;DP=117;ECNT=1;GERMQ=19;MBQ=20,20;MFRL=165,163;MMQ=60,60;MPOS=34;NALOD=-0.3091;NLOD=4.93;POPAF=2.82;RPA=10,9;RU=T;STR;STRQ=93;TLOD=28.35;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=DISP1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.971e-05;AF_raw=0.0001;AF_male=5.875e-05;AF_female=4.126e-05;AF_afr=4.825e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0.0001;AF_nfe=4.708e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=0.00139776;AFR.sites.2015_08=0.0015;ALL.sites.2015_08=0.00139776;EUR.sites.2015_08=0.001;AMR.sites.2015_08=0.0014;EUR.sites.2015_08=0.001;EAS.sites.2015_08=0.001;SAS.sites.2015_08=0.002;avsnp150=rs546218400;ExAC_ALL=0.0058;ExAC_AFR=0.0034;ExAC_AMR=0.0036;ExAC_EAS=0.0053;ExAC_FIN=0.0007;ExAC_NFE=0.0077;ExAC_OTH=0.0119;ExAC_SAS=0.0034;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:41,1:0.071:42:15,0:7,0:25,1:22,19,0,1	0/1:36,39:0.522:75:10,9:6,11:18,20:18,18,20,19
chr1	223005605	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=71,71|20,17;DP=187;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=154,185;MMQ=60,60;MPOS=32;NALOD=1.66;NLOD=12.94;POPAF=6;TLOD=79.78;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=DISP1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DISP1:NM_001369594:exon8:c.T4208A:p.L1403H,DISP1:NM_001377228:exon8:c.T4208A:p.L1403H,DISP1:NM_001350630:exon9:c.T3479A:p.L1160H,DISP1:NM_001377229:exon9:c.T4208A:p.L1403H,DISP1:NM_032890:exon10:c.T4208A:p.L1403H;cytoBand=1q41;SIFT_score=0.103;SIFT_converted_rankscore=0.301;SIFT_pred=T;SIFT4G_score=0.052;SIFT4G_converted_rankscore=0.476;SIFT4G_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.029;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.014;Polyphen2_HVAR_pred=B;LRT_score=0.017;LRT_converted_rankscore=0.015;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-2.88;FATHMM_converted_rankscore=0.915;FATHMM_pred=D;PROVEAN_score=0.14;PROVEAN_converted_rankscore=0.054;PROVEAN_pred=N;VEST4_score=0.128;VEST4_rankscore=0.122;MetaSVM_score=-0.563;MetaSVM_rankscore=0.663;MetaSVM_pred=T;MetaLR_score=0.445;MetaLR_rankscore=0.781;MetaLR_pred=T;MetaRNN_score=0.048;MetaRNN_rankscore=0.042;MetaRNN_pred=T;M-CAP_score=0.066;M-CAP_rankscore=0.699;M-CAP_pred=D;REVEL_score=0.186;REVEL_rankscore=0.466;MutPred_score=0.221;MutPred_rankscore=0.144;MVP_score=0.282;MVP_rankscore=0.278;MPC_score=0.227;MPC_rankscore=0.253;PrimateAI_score=0.210;PrimateAI_rankscore=0.008;PrimateAI_pred=T;DEOGEN2_score=0.029;DEOGEN2_rankscore=0.207;DEOGEN2_pred=T;BayesDel_addAF_score=-0.083;BayesDel_addAF_rankscore=0.392;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.357;BayesDel_noAF_rankscore=0.384;BayesDel_noAF_pred=T;ClinPred_score=0.086;ClinPred_rankscore=0.107;ClinPred_pred=T;LIST-S2_score=0.301;LIST-S2_rankscore=0.056;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=-0.440;CADD_raw_rankscore=0.018;CADD_phred=0.159;DANN_score=0.525;DANN_rankscore=0.048;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.043;fathmm-XF_coding_rankscore=0.066;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.489;Eigen-raw_coding_rankscore=0.019;Eigen-PC-raw_coding=-1.548;Eigen-PC-raw_coding_rankscore=0.020;GenoCanyon_score=0.999;GenoCanyon_rankscore=0.377;integrated_fitCons_score=0.651;integrated_fitCons_rankscore=0.469;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.95;GERP++_RS=-6.99;GERP++_RS_rankscore=0.014;phyloP100way_vertebrate=-0.138;phyloP100way_vertebrate_rankscore=0.104;phyloP30way_mammalian=-0.854;phyloP30way_mammalian_rankscore=0.030;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=1.243;SiPhy_29way_logOdds_rankscore=0.018;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:67,0:0.022:67:18,0:23,0:43,0:34,33,0,0	0/1:75,37:0.344:112:24,7:17,14:41,21:37,38,20,17
chr1	223394488	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=82,78|24,24;DP=212;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=167,126;MMQ=60,60;MPOS=25;NALOD=1.7;NLOD=14.71;POPAF=6;TLOD=108.96;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CCDC185;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CCDC185:NM_152610:exon1:c.A1013G:p.N338S;cytoBand=1q41;SIFT_score=0.847;SIFT_converted_rankscore=0.028;SIFT_pred=T;SIFT4G_score=0.795;SIFT4G_converted_rankscore=0.041;SIFT4G_pred=T;Polyphen2_HDIV_score=0.021;Polyphen2_HDIV_rankscore=0.185;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.165;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0.55;MutationAssessor_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=2.06;FATHMM_converted_rankscore=0.205;FATHMM_pred=T;PROVEAN_score=-0.89;PROVEAN_converted_rankscore=0.240;PROVEAN_pred=N;VEST4_score=0.022;VEST4_rankscore=0.004;MetaSVM_score=-0.955;MetaSVM_rankscore=0.401;MetaSVM_pred=T;MetaLR_score=0.025;MetaLR_rankscore=0.105;MetaLR_pred=T;MetaRNN_score=0.032;MetaRNN_rankscore=0.013;MetaRNN_pred=T;M-CAP_score=0.004;M-CAP_rankscore=0.092;M-CAP_pred=T;REVEL_score=0.014;REVEL_rankscore=0.021;MutPred_score=0.18;MutPred_rankscore=0.087;MVP_score=0.158;MVP_rankscore=0.154;MPC_score=0.117;MPC_rankscore=0.132;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.023;DEOGEN2_rankscore=0.178;DEOGEN2_pred=T;BayesDel_addAF_score=-0.427;BayesDel_addAF_rankscore=0.015;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.851;BayesDel_noAF_rankscore=0.009;BayesDel_noAF_pred=T;ClinPred_score=0.034;ClinPred_rankscore=0.026;ClinPred_pred=T;LIST-S2_score=0.504;LIST-S2_rankscore=0.159;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=-1.076;CADD_raw_rankscore=0.004;CADD_phred=0.005;DANN_score=0.327;DANN_rankscore=0.019;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_rankscore=0.048;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.032;fathmm-XF_coding_rankscore=0.035;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.135;Eigen-raw_coding_rankscore=0.060;Eigen-PC-raw_coding=-1.129;Eigen-PC-raw_coding_rankscore=0.071;GenoCanyon_score=0.034;GenoCanyon_rankscore=0.141;integrated_fitCons_score=0.487;integrated_fitCons_rankscore=0.140;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.71;GERP++_RS=2.3;GERP++_RS_rankscore=0.277;phyloP100way_vertebrate=-1.702;phyloP100way_vertebrate_rankscore=0.020;phyloP30way_mammalian=-0.150;phyloP30way_mammalian_rankscore=0.110;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=3.590;SiPhy_29way_logOdds_rankscore=0.075;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:78,0:0.019:78:23,0:21,0:49,0:42,36,0,0	0/1:82,48:0.4:130:20,8:19,17:44,29:40,42,24,24
chr1	223712648	.	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=59,48|2,2;DP=112;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=164,161;MMQ=60,60;MPOS=33;NALOD=1.52;NLOD=9.63;POPAF=6;TLOD=5.51;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=CAPN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CAPN2:NM_001748:exon1:c.G8A:p.G3D;cytoBand=1q41;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;SIFT4G_score=0.005;SIFT4G_converted_rankscore=0.722;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.978;Polyphen2_HVAR_rankscore=0.741;Polyphen2_HVAR_pred=D;LRT_score=0.013;LRT_converted_rankscore=0.291;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.465;MutationAssessor_rankscore=0.924;MutationAssessor_pred=M;FATHMM_score=-2.22;FATHMM_converted_rankscore=0.870;FATHMM_pred=D;PROVEAN_score=-4.31;PROVEAN_converted_rankscore=0.766;PROVEAN_pred=D;VEST4_score=0.51;VEST4_rankscore=0.541;MetaSVM_score=0.385;MetaSVM_rankscore=0.889;MetaSVM_pred=D;MetaLR_score=0.735;MetaLR_rankscore=0.909;MetaLR_pred=D;MetaRNN_score=0.796;MetaRNN_rankscore=0.791;MetaRNN_pred=D;M-CAP_score=0.363;M-CAP_rankscore=0.926;M-CAP_pred=D;REVEL_score=0.611;REVEL_rankscore=0.850;MutPred_score=0.568;MutPred_rankscore=0.690;MVP_score=0.904;MVP_rankscore=0.903;MPC_score=0.710;MPC_rankscore=0.617;PrimateAI_score=0.526;PrimateAI_rankscore=0.425;PrimateAI_pred=T;DEOGEN2_score=0.621;DEOGEN2_rankscore=0.881;DEOGEN2_pred=D;BayesDel_addAF_score=0.109;BayesDel_addAF_rankscore=0.652;BayesDel_addAF_pred=D;BayesDel_noAF_score=-0.082;BayesDel_noAF_rankscore=0.648;BayesDel_noAF_pred=T;ClinPred_score=0.972;ClinPred_rankscore=0.696;ClinPred_pred=D;LIST-S2_score=0.766;LIST-S2_rankscore=0.394;LIST-S2_pred=T;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.172;CADD_raw_rankscore=0.559;CADD_phred=23.8;DANN_score=0.998;DANN_rankscore=0.894;fathmm-MKL_coding_score=0.717;fathmm-MKL_coding_rankscore=0.351;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.347;fathmm-XF_coding_rankscore=0.442;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.447;Eigen-raw_coding_rankscore=0.640;Eigen-PC-raw_coding=0.338;Eigen-PC-raw_coding_rankscore=0.578;GenoCanyon_score=1.0;GenoCanyon_rankscore=0.983;integrated_fitCons_score=0.652;integrated_fitCons_rankscore=0.481;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.22;GERP++_RS=3.28;GERP++_RS_rankscore=0.367;phyloP100way_vertebrate=1.504;phyloP100way_vertebrate_rankscore=0.353;phyloP30way_mammalian=0.133;phyloP30way_mammalian_rankscore=0.192;phastCons100way_vertebrate=0.956;phastCons100way_vertebrate_rankscore=0.334;phastCons30way_mammalian=0.394;phastCons30way_mammalian_rankscore=0.256;SiPhy_29way_logOdds=4.462;SiPhy_29way_logOdds_rankscore=0.111;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.029:48:15,0:16,0:32,0:27,21,0,0	0/1:59,4:0.083:63:15,1:17,1:32,2:32,27,2,2
chr1	223772113	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=46,27|9,6;DP=95;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=189,165;MMQ=60,60;MPOS=32;NALOD=1.54;NLOD=9.93;POPAF=6;TLOD=30.85;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CAPN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:48,0:0.028:48:17,0:16,0:33,0:30,18,0,0	0/1:25,15:0.37:40:6,6:10,3:16,9:16,9,9,6
chr1	223774811	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=43,34|34,35;DP=147;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=165,140;MMQ=60,60;MPOS=36;NALOD=1.24;NLOD=9.74;POPAF=3.04;RPA=10,9;RU=T;STR;STRQ=93;TLOD=69.07;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CAPN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0002;AF_raw=0.0003;AF_male=0.0003;AF_female=0.0002;AF_afr=0.0005;AF_ami=0;AF_amr=0.0002;AF_asj=0;AF_eas=0;AF_fin=9.919e-05;AF_nfe=6.255e-05;AF_oth=0.0005;AF_sas=0.0010;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs747569336;ExAC_ALL=0.0139;ExAC_AFR=0.0136;ExAC_AMR=0.0071;ExAC_EAS=0.0109;ExAC_FIN=0.0031;ExAC_NFE=0.0170;ExAC_OTH=0.0110;ExAC_SAS=0.0126;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:53,0:0.029:53:17,0:14,0:33,0:30,23,0,0	0/1:24,69:0.722:93:6,20:7,16:14,37:13,11,34,35
chr1	223793283	.	T	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=29,23|8,9;DP=70;ECNT=2;GERMQ=61;MBQ=20,20;MFRL=171,145;MMQ=60,60;MPOS=16;NALOD=0.977;NLOD=5.1;POPAF=6;TLOD=7.37;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TP53BP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs968801982;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:26,0:0.053:26:8,0:7,0:17,0:1|0:223793282_AT_A:223793282:14,12,0,0	1|0:26,17:0.407:43:7,2:7,3:14,10:1|0:223793282_AT_A:223793282:15,11,8,9
chr1	223806824	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=26,19|26,26;DP=103;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,152;MMQ=60,60;MPOS=41;NALOD=1.41;NLOD=7.11;POPAF=3.27;RPA=9,8;RU=A;STR;STRQ=93;TLOD=54.06;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TP53BP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q41;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.796e-05;AF_raw=0.0001;AF_male=4.395e-05;AF_female=0.0001;AF_afr=0.0002;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0.0001;AF_nfe=1.562e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768381618;ExAC_ALL=0.0028;ExAC_AFR=0.0023;ExAC_AMR=0.0003;ExAC_EAS=0.0020;ExAC_FIN=0;ExAC_NFE=0.0036;ExAC_OTH=0.0061;ExAC_SAS=0.0033;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:37,0:0.038:37:11,0:12,0:24,0:22,15,0,0	0/1:8,52:0.853:60:1,14:3,12:4,27:4,4,26,26
chr1	224175596	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=98,105|31,29;DP=270;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=162,161;MMQ=60,60;MPOS=44;NALOD=1.79;NLOD=18.36;POPAF=6;TLOD=134.91;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=FBXO28\x3bDEGS1;GeneDetail.refGene=dist\x3d13549\x3bdist\x3d7644;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.11;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:95,0:0.016:95:22,0:36,0:61,0:47,48,0,0	0/1:108,60:0.362:168:26,13:28,19:59,33:51,57,31,29
chr1	225419673	.	GAA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=36,25|11,7;DP=89;ECNT=1;GERMQ=79;MBQ=20,20;MFRL=181,169;MMQ=60,60;MPOS=22;NALOD=0.906;NLOD=7.77;POPAF=6;RPA=11,9;RU=A;STR;STRQ=93;TLOD=22.7;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LBR;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0;AF_raw=7.366e-06;AF_male=0;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs774200667;ExAC_ALL=2.641e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=2.51e-05;ExAC_OTH=0;ExAC_SAS=8.828e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.033:36:9,0:14,0:26,0:23,13,0,0	0/1:25,18:0.432:43:6,4:7,6:14,11:13,12,11,7
chr1	225862215	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=44,38|15,12;DP=115;ECNT=1;GERMQ=86;MBQ=20,20;MFRL=170,152;MMQ=60,60;MPOS=27;NALOD=1.41;NLOD=7.22;POPAF=6;TLOD=59.29;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=TMEM63A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=0.001;SAS.sites.2015_08=.;avsnp150=rs568731459;ExAC_ALL=2.48e-05;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0003;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:39,0:0.037:39:10,0:12,0:24,0:20,19,0,0	0/1:43,27:0.39:70:10,10:14,5:24,15:24,19,15,12
chr1	225887814	COSV55282821	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=63,60|14,13;DP=156;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=160,144;MMQ=60,60;MPOS=33;NALOD=1.69;NLOD=14.44;POPAF=6;TLOD=56.32;AA=p.L265P,p.S157P;CDS=c.794T>C,c.469T>C;CNT=2,2;GENE=AL117348.2,LEFTY1;HGVSC=ENST00000432920.2:c.794T>C,ENST00000272134.5:c.469T>C;HGVSG=1:g.225887814A>G,1:g.225887814A>G;HGVSP=ENSP00000414068.2:p.Leu265Pro,ENSP00000272134.5:p.Ser157Pro;LEGACY_ID=COSM6375167,COSM6375167;STRAND=-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=LEFTY1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LEFTY1:NM_020997:exon2:c.T469C:p.S157P;cytoBand=1q42.12;SIFT_score=0.104;SIFT_converted_rankscore=0.300;SIFT_pred=T;SIFT4G_score=0.208;SIFT4G_converted_rankscore=0.379;SIFT4G_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.099;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.01;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_converted_rankscore=0.332;LRT_pred=N;MutationTaster_score=0.727;MutationTaster_converted_rankscore=0.299;MutationTaster_pred=N;MutationAssessor_score=2.71;MutationAssessor_rankscore=0.793;MutationAssessor_pred=M;FATHMM_score=-0.12;FATHMM_converted_rankscore=0.646;FATHMM_pred=T;PROVEAN_score=-1.67;PROVEAN_converted_rankscore=0.399;PROVEAN_pred=N;VEST4_score=0.092;VEST4_rankscore=0.071;MetaSVM_score=-1.062;MetaSVM_rankscore=0.112;MetaSVM_pred=T;MetaLR_score=0.121;MetaLR_rankscore=0.421;MetaLR_pred=T;MetaRNN_score=0.174;MetaRNN_rankscore=0.322;MetaRNN_pred=T;M-CAP_score=0.011;M-CAP_rankscore=0.290;M-CAP_pred=T;REVEL_score=0.062;REVEL_rankscore=0.183;MutPred_score=0.516;MutPred_rankscore=0.616;MVP_score=0.569;MVP_rankscore=0.566;MPC_score=2.236;MPC_rankscore=0.960;PrimateAI_score=0.826;PrimateAI_rankscore=0.860;PrimateAI_pred=D;DEOGEN2_score=0.237;DEOGEN2_rankscore=0.604;DEOGEN2_pred=T;BayesDel_addAF_score=0.000;BayesDel_addAF_rankscore=0.517;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.238;BayesDel_noAF_rankscore=0.510;BayesDel_noAF_pred=T;ClinPred_score=0.212;ClinPred_rankscore=0.211;ClinPred_pred=T;LIST-S2_score=0.612;LIST-S2_rankscore=0.233;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=2.229;CADD_raw_rankscore=0.353;CADD_phred=21.1;DANN_score=0.957;DANN_rankscore=0.276;fathmm-MKL_coding_score=0.416;fathmm-MKL_coding_rankscore=0.267;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.235;fathmm-XF_coding_rankscore=0.357;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.850;Eigen-raw_coding_rankscore=0.120;Eigen-PC-raw_coding=-0.888;Eigen-PC-raw_coding_rankscore=0.124;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.501;integrated_fitCons_score=0.581;integrated_fitCons_rankscore=0.331;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=3.58;GERP++_RS=-2.74;GERP++_RS_rankscore=0.056;phyloP100way_vertebrate=0.725;phyloP100way_vertebrate_rankscore=0.256;phyloP30way_mammalian=0.250;phyloP30way_mammalian_rankscore=0.265;phastCons100way_vertebrate=0.490;phastCons100way_vertebrate_rankscore=0.269;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=0.626;SiPhy_29way_logOdds_rankscore=0.007;Interpro_domain=TGF-beta,_propeptide\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:78,0:0.02:78:16,0:27,0:48,0:41,37,0,0	0/1:45,27:0.355:72:17,6:9,9:28,15:22,23,14,13
chr1	226127143	.	AAC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,13|13,6;DP=62;ECNT=1;GERMQ=40;MBQ=20,20;MFRL=208,170;MMQ=60,60;MPOS=37;NALOD=1.15;NLOD=3.91;POPAF=6;RPA=4,3;RU=AC;STR;STRQ=18;TLOD=41.56;ANNOVAR_DATE=2020-06-08;Func.refGene=intergenic;Gene.refGene=LINC01703\x3bACBD3;GeneDetail.refGene=dist\x3d36855\x3bdist\x3d17534;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:16,0:0.067:16:2,0:11,0:13,0:12,4,0,0	0/1:25,19:0.451:44:8,4:8,9:16,13:16,9,13,6
chr1	226250816	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=34,32|9,9;DP=86;ECNT=1;GERMQ=60;MBQ=20,20;MFRL=150,169;MMQ=60,60;MPOS=42;NALOD=1.39;NLOD=6.84;POPAF=3.71;RPA=9,8;RU=A;STR;STRQ=12;TLOD=12.05;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=LIN9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=0.0003;AF_raw=0.0003;AF_male=0.0003;AF_female=0.0003;AF_afr=0.0007;AF_ami=0;AF_amr=0.0009;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.564e-05;AF_oth=0.0005;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs762797489;ExAC_ALL=0.0007;ExAC_AFR=0.0013;ExAC_AMR=0.0001;ExAC_EAS=0.0015;ExAC_FIN=0;ExAC_NFE=0.0009;ExAC_OTH=0.0029;ExAC_SAS=7.502e-05;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:36,0:0.04:36:9,0:10,0:23,0:19,17,0,0	0/1:30,18:0.383:48:4,5:10,4:15,9:15,15,9,9
chr1	226736171	.	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=61,70|13,15;DP=170;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=155,159;MMQ=60,60;MPOS=21;NALOD=1.52;NLOD=9.32;POPAF=6;TLOD=50.91;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ITPKB;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ITPKB:NM_002221:exon2:c.G1288C:p.A430P;cytoBand=1q42.12;SIFT_score=0.059;SIFT_converted_rankscore=0.375;SIFT_pred=T;SIFT4G_score=0.107;SIFT4G_converted_rankscore=0.527;SIFT4G_pred=T;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.163;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.130;Polyphen2_HVAR_pred=B;LRT_score=0.199;LRT_converted_rankscore=0.033;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.245;MutationAssessor_rankscore=0.314;MutationAssessor_pred=L;FATHMM_score=1.87;FATHMM_converted_rankscore=0.241;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_converted_rankscore=0.418;PROVEAN_pred=N;VEST4_score=0.186;VEST4_rankscore=0.229;MetaSVM_score=-1.046;MetaSVM_rankscore=0.155;MetaSVM_pred=T;MetaLR_score=0.031;MetaLR_rankscore=0.133;MetaLR_pred=T;MetaRNN_score=0.064;MetaRNN_rankscore=0.085;MetaRNN_pred=T;M-CAP_score=0.006;M-CAP_rankscore=0.151;M-CAP_pred=T;REVEL_score=0.006;REVEL_rankscore=0.004;MutPred_score=0.246;MutPred_rankscore=0.181;MVP_score=0.139;MVP_rankscore=0.135;MPC_score=0.347;MPC_rankscore=0.366;PrimateAI_score=0.336;PrimateAI_rankscore=0.158;PrimateAI_pred=T;DEOGEN2_score=0.061;DEOGEN2_rankscore=0.315;DEOGEN2_pred=T;BayesDel_addAF_score=-0.268;BayesDel_addAF_rankscore=0.120;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.622;BayesDel_noAF_rankscore=0.110;BayesDel_noAF_pred=T;ClinPred_score=0.238;ClinPred_rankscore=0.223;ClinPred_pred=T;LIST-S2_score=0.399;LIST-S2_rankscore=0.101;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b;CADD_raw=0.101;CADD_raw_rankscore=0.050;CADD_phred=2.102;DANN_score=0.936;DANN_rankscore=0.235;fathmm-MKL_coding_score=0.056;fathmm-MKL_coding_rankscore=0.115;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.144;fathmm-XF_coding_rankscore=0.267;fathmm-XF_coding_pred=N;Eigen-raw_coding=-1.564;Eigen-raw_coding_rankscore=0.015;Eigen-PC-raw_coding=-1.676;Eigen-PC-raw_coding_rankscore=0.012;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.405;integrated_fitCons_rankscore=0.063;integrated_confidence_value=1;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.71;GERP++_RS=-8.51;GERP++_RS_rankscore=0.008;phyloP100way_vertebrate=-1.238;phyloP100way_vertebrate_rankscore=0.030;phyloP30way_mammalian=-0.743;phyloP30way_mammalian_rankscore=0.036;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=4.614;SiPhy_29way_logOdds_rankscore=0.118;Interpro_domain=.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:44,0:0.03:44:16,0:6,0:31,0:22,22,0,0	0/1:87,28:0.239:115:17,4:22,9:53,16:39,48,13,15
chr1	226881893	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=38,30|15,11;DP=97;ECNT=1;GERMQ=76;MBQ=20,20;MFRL=164,137;MMQ=60,60;MPOS=28;NALOD=1.41;NLOD=7.22;POPAF=6;TLOD=62.84;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=PSEN2;GeneDetail.refGene=NM_012486:c.-15T>C\x3bNM_000447:c.-15T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=0.03;SIFT_converted_rankscore=0.454;SIFT_pred=D;SIFT4G_score=0.016;SIFT4G_converted_rankscore=0.610;SIFT4G_pred=D;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.223;LRT_converted_rankscore=0.161;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-6.75;FATHMM_converted_rankscore=0.998;FATHMM_pred=D;PROVEAN_score=-0.18;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST4_score=0.077;VEST4_rankscore=0.093;MetaSVM_score=1.256;MetaSVM_rankscore=1.000;MetaSVM_pred=D;MetaLR_score=0.966;MetaLR_rankscore=0.989;MetaLR_pred=D;MetaRNN_score=0.226;MetaRNN_rankscore=0.395;MetaRNN_pred=T;M-CAP_score=0.721;M-CAP_rankscore=0.977;M-CAP_pred=D;REVEL_score=0.200;REVEL_rankscore=0.489;MutPred_score=0.227;MutPred_rankscore=0.152;MVP_score=0.886;MVP_rankscore=0.885;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=0.010;BayesDel_addAF_rankscore=0.530;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.224;BayesDel_noAF_rankscore=0.524;BayesDel_noAF_pred=T;ClinPred_score=0.218;ClinPred_rankscore=0.214;ClinPred_pred=T;LIST-S2_score=0.382;LIST-S2_rankscore=0.093;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=1.000;CADD_raw_rankscore=0.150;CADD_phred=11.62;DANN_score=0.971;DANN_rankscore=0.322;fathmm-MKL_coding_score=0.035;fathmm-MKL_coding_rankscore=0.087;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.083;fathmm-XF_coding_rankscore=0.167;fathmm-XF_coding_pred=N;Eigen-raw_coding=-0.535;Eigen-raw_coding_rankscore=0.209;Eigen-PC-raw_coding=-0.686;Eigen-PC-raw_coding_rankscore=0.173;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.409;integrated_fitCons_score=0.617;integrated_fitCons_rankscore=0.397;integrated_confidence_value=1;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.8;GERP++_RS=0.801;GERP++_RS_rankscore=0.178;phyloP100way_vertebrate=0.344;phyloP100way_vertebrate_rankscore=0.197;phyloP30way_mammalian=0.877;phyloP30way_mammalian_rankscore=0.325;phastCons100way_vertebrate=0.001;phastCons100way_vertebrate_rankscore=0.138;phastCons30way_mammalian=0.046;phastCons30way_mammalian_rankscore=0.167;SiPhy_29way_logOdds=4.077;SiPhy_29way_logOdds_rankscore=0.094;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:38,0:0.038:38:8,0:16,0:24,0:22,16,0,0	0/1:30,26:0.485:56:6,7:10,8:16,15:16,14,15,11
chr1	226883934	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=22,19|5,3;DP=59;ECNT=1;GERMQ=75;MBQ=20,20;MFRL=158,149;MMQ=60,60;MPOS=25;NALOD=1.32;NLOD=5.96;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=11.85;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:24,0:0.046:24:10,0:4,0:20,0:13,11,0,0	0/1:17,8:0.366:25:6,3:4,2:11,6:9,8,5,3
chr1	226965593	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=28,19|7,6;DP=62;ECNT=1;GERMQ=67;MBQ=20,20;MFRL=151,154;MMQ=60,60;MPOS=17;NALOD=1.3;NLOD=5.7;POPAF=6;RPA=5,4;RU=G;STR;STRQ=93;TLOD=13.28;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COQ8A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.12;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.98e-06;AF_raw=6.975e-06;AF_male=0;AF_female=1.354e-05;AF_afr=2.379e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1025763613;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.048:28:8,0:10,0:19,0:17,11,0,0	0/1:19,13:0.38:32:5,5:7,2:12,7:11,8,7,6
chr1	227028637	COSV62008004	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=39,31|14,9;DP=95;ECNT=1;GERMQ=72;MBQ=20,20;MFRL=160,171;MMQ=60,60;MPOS=35;NALOD=1.24;NLOD=4.77;POPAF=6;TLOD=50.72;AA=p.?,p.?,p.?,p.?,p.?;CDS=c.4084+20G>A,c.2224+20G>A,c.4267+20G>A,c.4366+20G>A,c.4327+20G>A;CNT=1,1,1,1,1;GENE=CDC42BPA_ENST00000366767,CDC42BPA_ENST00000366766,CDC42BPA_ENST00000366764,CDC42BPA_ENST00000334218,CDC42BPA;HGVSC=ENST00000366767.7:c.4084+20G>A,ENST00000366766.6:c.2224+20G>A,ENST00000366764.6:c.4267+20G>A,ENST00000334218.9:c.4366+20G>A,ENST00000366769.7:c.4327+20G>A;HGVSG=1:g.227028637C>T,1:g.227028637C>T,1:g.227028637C>T,1:g.227028637C>T,1:g.227028637C>T;LEGACY_ID=COSN13521477,COSN13521477,COSN13521477,COSN13521477,COSN13521477;STRAND=-,-,-,-,-;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CDC42BPA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=2.793e-05;AF_raw=2.79e-05;AF_male=5.763e-05;AF_female=0;AF_afr=4.758e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.098e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs375124181;ExAC_ALL=4.537e-05;ExAC_AFR=0.0002;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=4.71e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:23,0:0.055:23:6,0:9,0:16,0:14,9,0,0	0/1:47,23:0.366:70:12,6:12,8:25,14:25,22,14,9
chr1	227030506	.	GA	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=27,36|6,7;DP=85;ECNT=1;GERMQ=89;MBQ=20,20;MFRL=155,150;MMQ=60,60;MPOS=46;NALOD=1.42;NLOD=7.49;POPAF=6;RPA=7,6;RU=A;STR;STRQ=93;TLOD=11.24;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CDC42BPA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:40,0:0.037:40:8,0:11,0:25,0:17,23,0,0	0/1:23,13:0.364:36:5,2:7,4:13,7:10,13,6,7
chr1	227040265	.	C	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=32,46|2,2;DP=85;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=177,139;MMQ=60,60;MPOS=47;NALOD=1.34;NLOD=6.32;POPAF=6;TLOD=5.79;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=CDC42BPA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:27,0:0.043:27:9,0:10,0:21,0:8,19,0,0	0/1:51,4:0.096:55:10,1:16,1:27,2:24,27,2,2
chr1	227925539	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=21,34|7,7;DP=69;ECNT=1;GERMQ=78;MBQ=20,20;MFRL=184,161;MMQ=60,60;MPOS=58;NALOD=1.38;NLOD=6.92;POPAF=6;TLOD=25.36;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=WNT9A;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:34,0:0.04:34:13,0:6,0:23,0:13,21,0,0	0/1:21,14:0.364:35:7,4:3,2:13,7:8,13,7,7
chr1	228147602	.	AC	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=45,46|17,16;DP=131;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=171,168;MMQ=60,60;MPOS=43;NALOD=1.52;NLOD=9.6;POPAF=6;RPA=5,4;RU=C;STR;STRQ=93;TLOD=39.93;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GUK1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs35749865;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:42,0:0.029:42:11,0:8,0:32,0:20,22,0,0	0/1:49,33:0.435:82:12,11:13,6:25,19:25,24,17,16
chr1	228219304	.	TC	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=63,50|13,10;DP=138;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=178,150;MMQ=60,60;MPOS=33;NALOD=1.61;NLOD=11.68;POPAF=6;RPA=6,5;RU=C;STR;STRQ=93;TLOD=22.09;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:64,0:0.024:64:20,0:18,0:39,0:37,27,0,0	0/1:49,23:0.34:72:16,6:10,7:26,13:26,23,13,10
chr1	228224495	COSV52807624	G	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=72,63|15,15;DP=170;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=169,159;MMQ=60,60;MPOS=39;NALOD=1.62;NLOD=11.99;POPAF=4.61;TLOD=61.74;AA=p.R897H,p.R989H,p.R897H,p.R989H,p.R897H;CDS=c.2690G>A,c.2966G>A,c.2690G>A,c.2966G>A,c.2690G>A;CNT=3,3,3,3,3;GENE=OBSCN_ENST00000636875,OBSCN,OBSCN_ENST00000422127,OBSCN_ENST00000366707,OBSCN_ENST00000284548;HGVSC=ENST00000636875.1:c.2690G>A,ENST00000570156.6:c.2966G>A,ENST00000422127.5:c.2690G>A,ENST00000366707.9:c.2966G>A,ENST00000284548.15:c.2690G>A;HGVSG=1:g.228224495G>A,1:g.228224495G>A,1:g.228224495G>A,1:g.228224495G>A,1:g.228224495G>A;HGVSP=ENSP00000490900.1:p.Arg897His,ENSP00000455507.2:p.Arg989His,ENSP00000409493.1:p.Arg897His,ENSP00000355668.6:p.Arg989His,ENSP00000284548.11:p.Arg897His;LEGACY_ID=COSM904991,COSM904991,COSM904991,COSM904991,COSM904991;STRAND=+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon9:c.G2690A:p.R897H,OBSCN:NM_052843:exon9:c.G2690A:p.R897H,OBSCN:NM_001271223:exon10:c.G2966A:p.R989H;cytoBand=1q42.13;SIFT_score=0.675;SIFT_converted_rankscore=0.051;SIFT_pred=T;SIFT4G_score=0.231;SIFT4G_converted_rankscore=0.251;SIFT4G_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.142;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.004;Polyphen2_HVAR_rankscore=0.101;Polyphen2_HVAR_pred=B;LRT_score=0.262;LRT_converted_rankscore=0.153;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.186;MutationTaster_pred=N;MutationAssessor_score=0.895;MutationAssessor_rankscore=0.224;MutationAssessor_pred=L;FATHMM_score=0.48;FATHMM_converted_rankscore=0.618;FATHMM_pred=T;PROVEAN_score=0.0;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST4_score=0.027;VEST4_rankscore=0.013;MetaSVM_score=-1.074;MetaSVM_rankscore=0.086;MetaSVM_pred=T;MetaLR_score=0.070;MetaLR_rankscore=0.285;MetaLR_pred=T;MetaRNN_score=0.052;MetaRNN_rankscore=0.052;MetaRNN_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.380;M-CAP_pred=T;REVEL_score=0.046;REVEL_rankscore=0.129;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.278;MVP_rankscore=0.274;MPC_score=0.117;MPC_rankscore=0.132;PrimateAI_score=0.191;PrimateAI_rankscore=0.003;PrimateAI_pred=T;DEOGEN2_score=0.039;DEOGEN2_rankscore=0.251;DEOGEN2_pred=T;BayesDel_addAF_score=-0.402;BayesDel_addAF_rankscore=0.022;BayesDel_addAF_pred=T;BayesDel_noAF_score=-0.634;BayesDel_noAF_rankscore=0.101;BayesDel_noAF_pred=T;ClinPred_score=0.018;ClinPred_rankscore=0.005;ClinPred_pred=T;LIST-S2_score=0.051;LIST-S2_rankscore=0.004;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b.\x3b;CADD_raw=-1.198;CADD_raw_rankscore=0.003;CADD_phred=0.002;DANN_score=0.481;DANN_rankscore=0.040;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.015;fathmm-MKL_coding_pred=N;fathmm-XF_coding_score=0.030;fathmm-XF_coding_rankscore=0.029;fathmm-XF_coding_pred=N;Eigen-raw_coding=-2.106;Eigen-raw_coding_rankscore=0.001;Eigen-PC-raw_coding=-2.197;Eigen-PC-raw_coding_rankscore=0.001;GenoCanyon_score=0.766;GenoCanyon_rankscore=0.236;integrated_fitCons_score=0.732;integrated_fitCons_rankscore=0.924;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.42;GERP++_RS=-8.83;GERP++_RS_rankscore=0.007;phyloP100way_vertebrate=-0.482;phyloP100way_vertebrate_rankscore=0.066;phyloP30way_mammalian=-2.336;phyloP30way_mammalian_rankscore=0.005;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.064;phastCons30way_mammalian=0.000;phastCons30way_mammalian_rankscore=0.019;SiPhy_29way_logOdds=4.771;SiPhy_29way_logOdds_rankscore=0.125;Interpro_domain=.\x3bImmunoglobulin-like_domain|Immunoglobulin_subtype\x3bImmunoglobulin-like_domain|Immunoglobulin_subtype\x3bImmunoglobulin-like_domain|Immunoglobulin_subtype\x3bImmunoglobulin-like_domain|Immunoglobulin_subtype;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=4.185e-05;AF_raw=4.184e-05;AF_male=5.756e-05;AF_female=2.707e-05;AF_afr=7.131e-05;AF_ami=0;AF_amr=7.317e-05;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=3.097e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs368190577;ExAC_ALL=5.827e-05;ExAC_AFR=0.0001;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=9.046e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:64,0:0.023:64:16,0:23,0:40,0:33,31,0,0	0/1:71,30:0.298:101:17,6:21,9:39,16:39,32,15,15
chr1	228323539	COSV52771787	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=66,73|24,24;DP=192;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=163,153;MMQ=60,60;MPOS=32;NALOD=1.58;NLOD=10.78;POPAF=4.61;TLOD=100.1;AA=p.G6152%3D,p.G5195%3D,p.G5195%3D,p.G5195%3D,p.G6152%3D;CDS=c.18456C>T,c.15585C>T,c.15585C>T,c.15585C>T,c.18456C>T;CNT=2,2,2,2,2;GENE=OBSCN_ENST00000366707,OBSCN_ENST00000284548,OBSCN_ENST00000636875,OBSCN_ENST00000422127,OBSCN;HGVSC=ENST00000366707.9:c.18456C>T,ENST00000284548.15:c.15585C>T,ENST00000636875.1:c.15585C>T,ENST00000422127.5:c.15585C>T,ENST00000570156.6:c.18456C>T;HGVSG=1:g.228323539C>T,1:g.228323539C>T,1:g.228323539C>T,1:g.228323539C>T,1:g.228323539C>T;HGVSP=ENSP00000355668.6:p.Gly6152%3D,ENSP00000284548.11:p.Gly5195%3D,ENSP00000490900.1:p.Gly5195%3D,ENSP00000409493.1:p.Gly5195%3D,ENSP00000455507.2:p.Gly6152%3D;LEGACY_ID=COSM1339801,COSM1339801,COSM1339801,COSM1339801,COSM1339801;STRAND=+,+,+,+,+;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon56:c.C15585T:p.G5195G,OBSCN:NM_052843:exon56:c.C15585T:p.G5195G,OBSCN:NM_001271223:exon67:c.C18456T:p.G6152G;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=5.584e-05;AF_raw=5.58e-05;AF_male=5.762e-05;AF_female=5.417e-05;AF_afr=2.38e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=9.293e-05;AF_oth=0;AF_sas=0.0003;ALL.sites.2015_08=0.000199681;AFR.sites.2015_08=.;ALL.sites.2015_08=0.000199681;EUR.sites.2015_08=0.001;AMR.sites.2015_08=.;EUR.sites.2015_08=0.001;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs183960364;ExAC_ALL=0.0004;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0;ExAC_SAS=0.0020;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.026:56:13,0:17,0:36,0:26,30,0,0	0/1:83,48:0.361:131:19,14:22,11:45,25:40,43,24,24
chr1	228362689	.	AG	A	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=50,50|22,19;DP=150;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=154,141;MMQ=60,60;MPOS=37;NALOD=1.59;NLOD=11.1;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=50.64;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon80:c.18776delG:p.A6261Hfs*101,OBSCN:NM_001271223:exon91:c.21647delG:p.A7218Hfs*101;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.987e-06;AF_raw=6.977e-06;AF_male=0;AF_female=1.355e-05;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0.0003;AF_eas=0;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:60,0:0.025:60:14,0:20,0:37,0:31,29,0,0	0/1:40,41:0.522:81:11,9:9,13:22,24:19,21,22,19
chr1	228377730	.	TG	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=18,25|5,7;DP=61;ECNT=1;GERMQ=68;MBQ=20,20;MFRL=184,147;MMQ=60,60;MPOS=29;NALOD=1.34;NLOD=5.98;POPAF=6;RPA=6,5;RU=G;STR;STRQ=93;TLOD=13.5;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=1.397e-05;AF_raw=1.395e-05;AF_male=1.442e-05;AF_female=1.355e-05;AF_afr=2.383e-05;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.55e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs941036466;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:28,0:0.044:28:7,0:6,0:20,0:9,19,0,0	0/1:15,12:0.447:27:5,4:4,1:9,7:9,6,5,7
chr1	229444846	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=12,7|9,4;DP=35;ECNT=1;GERMQ=25;MBQ=20,20;MFRL=234,162;MMQ=60,60;MPOS=16;NALOD=0.803;NLOD=2.99;POPAF=4.61;RPA=9,8;RU=A;STR;STRQ=39;TLOD=20.45;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=NUP133;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=7.077e-06;AF_raw=1.402e-05;AF_male=1.464e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0.0003;AF_fin=0;AF_nfe=0;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:14,0:0.079:14:4,0:5,0:10,0:9,5,0,0	0/1:5,13:0.719:18:3,4:0,5:3,9:3,2,9,4
chr1	229527232	.	A	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=42,37|16,15;DP=110;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=177,175;MMQ=60,60;MPOS=53;NALOD=1.51;NLOD=9.33;POPAF=6;TLOD=69.46;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ABCB10;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCB10:NM_012089:exon9:c.T1722A:p.S574R;cytoBand=1q42.13;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;SIFT4G_score=0.011;SIFT4G_converted_rankscore=0.648;SIFT4G_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.647;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.865;Polyphen2_HVAR_rankscore=0.615;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.625;MutationAssessor_rankscore=0.416;MutationAssessor_pred=L;FATHMM_score=-3.32;FATHMM_converted_rankscore=0.939;FATHMM_pred=D;PROVEAN_score=-4.31;PROVEAN_converted_rankscore=0.766;PROVEAN_pred=D;VEST4_score=0.935;VEST4_rankscore=0.941;MetaSVM_score=0.628;MetaSVM_rankscore=0.923;MetaSVM_pred=D;MetaLR_score=0.811;MetaLR_rankscore=0.936;MetaLR_pred=D;MetaRNN_score=0.963;MetaRNN_rankscore=0.957;MetaRNN_pred=D;M-CAP_score=0.159;M-CAP_rankscore=0.839;M-CAP_pred=D;REVEL_score=0.900;REVEL_rankscore=0.973;MutPred_score=.;MutPred_rankscore=.;MVP_score=0.992;MVP_rankscore=0.992;MPC_score=0.626;MPC_rankscore=0.567;PrimateAI_score=0.664;PrimateAI_rankscore=0.620;PrimateAI_pred=T;DEOGEN2_score=0.686;DEOGEN2_rankscore=0.908;DEOGEN2_pred=D;BayesDel_addAF_score=0.436;BayesDel_addAF_rankscore=0.918;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.389;BayesDel_noAF_rankscore=0.917;BayesDel_noAF_pred=D;ClinPred_score=0.974;ClinPred_rankscore=0.703;ClinPred_pred=D;LIST-S2_score=0.958;LIST-S2_rankscore=0.841;LIST-S2_pred=D;Aloft_pred=.\x3b;Aloft_Confidence=.\x3b;CADD_raw=3.540;CADD_raw_rankscore=0.651;CADD_phred=24.8;DANN_score=0.998;DANN_rankscore=0.877;fathmm-MKL_coding_score=0.919;fathmm-MKL_coding_rankscore=0.545;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.374;fathmm-XF_coding_rankscore=0.459;fathmm-XF_coding_pred=N;Eigen-raw_coding=0.380;Eigen-raw_coding_rankscore=0.603;Eigen-PC-raw_coding=0.319;Eigen-PC-raw_coding_rankscore=0.567;GenoCanyon_score=0.005;GenoCanyon_rankscore=0.107;integrated_fitCons_score=0.651;integrated_fitCons_rankscore=0.469;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.27;GERP++_RS=1.79;GERP++_RS_rankscore=0.240;phyloP100way_vertebrate=2.382;phyloP100way_vertebrate_rankscore=0.440;phyloP30way_mammalian=1.233;phyloP30way_mammalian_rankscore=0.854;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=1.000;phastCons30way_mammalian_rankscore=0.863;SiPhy_29way_logOdds=8.181;SiPhy_29way_logOdds_rankscore=0.305;Interpro_domain=ABC_transporter-like|ABC_transporter-like|AAA+_ATPase_domain;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs147525990;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:50,0:0.03:50:10,0:16,0:31,0:26,24,0,0	0/1:29,31:0.503:60:8,8:7,9:17,17:16,13,16,15
chr1	229594421	.	T	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=65,63|3,1;DP=134;ECNT=1;GERMQ=93;MBQ=20,28;MFRL=154,169;MMQ=60,60;MPOS=19;NALOD=1.49;NLOD=9.03;POPAF=6;TLOD=7.11;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=TAF5L;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TAF5L:NM_014409:exon5:c.A1646G:p.D549G;cytoBand=1q42.13;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;SIFT4G_score=0.15;SIFT4G_converted_rankscore=0.325;SIFT4G_pred=T;Polyphen2_HDIV_score=0.03;Polyphen2_HDIV_rankscore=0.200;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.165;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.255;MutationAssessor_rankscore=0.642;MutationAssessor_pred=M;FATHMM_score=0.09;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=-3.26;PROVEAN_converted_rankscore=0.654;PROVEAN_pred=D;VEST4_score=0.302;VEST4_rankscore=0.341;MetaSVM_score=-0.925;MetaSVM_rankscore=0.448;MetaSVM_pred=T;MetaLR_score=0.159;MetaLR_rankscore=0.493;MetaLR_pred=T;MetaRNN_score=0.245;MetaRNN_rankscore=0.418;MetaRNN_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.345;M-CAP_pred=T;REVEL_score=0.311;REVEL_rankscore=0.636;MutPred_score=0.27;MutPred_rankscore=0.219;MVP_score=0.688;MVP_rankscore=0.685;MPC_score=1.284;MPC_rankscore=0.826;PrimateAI_score=0.531;PrimateAI_rankscore=0.432;PrimateAI_pred=T;DEOGEN2_score=0.247;DEOGEN2_rankscore=0.617;DEOGEN2_pred=T;BayesDel_addAF_score=0.220;BayesDel_addAF_rankscore=0.758;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.079;BayesDel_noAF_rankscore=0.755;BayesDel_noAF_pred=D;ClinPred_score=0.892;ClinPred_rankscore=0.543;ClinPred_pred=D;LIST-S2_score=0.764;LIST-S2_rankscore=0.390;LIST-S2_pred=T;Aloft_pred=.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b;CADD_raw=2.512;CADD_raw_rankscore=0.415;CADD_phred=22.4;DANN_score=0.996;DANN_rankscore=0.730;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.867;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.766;fathmm-XF_coding_rankscore=0.702;fathmm-XF_coding_pred=D;Eigen-raw_coding=-0.025;Eigen-raw_coding_rankscore=0.407;Eigen-PC-raw_coding=0.146;Eigen-PC-raw_coding_rankscore=0.469;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=5.97;GERP++_RS=5.97;GERP++_RS_rankscore=0.969;phyloP100way_vertebrate=5.137;phyloP100way_vertebrate_rankscore=0.646;phyloP30way_mammalian=1.138;phyloP30way_mammalian_rankscore=0.647;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.828;phastCons30way_mammalian_rankscore=0.344;SiPhy_29way_logOdds=16.447;SiPhy_29way_logOdds_rankscore=0.838;Interpro_domain=.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:45,0:0.031:45:15,0:14,0:30,0:22,23,0,0	0/1:83,4:0.078:87:21,0:24,3:46,3:43,40,3,1
chr1	230263045	.	TTAGAAGCCAGTAAGGCCA	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=11,25|1,2;DP=53;ECNT=2;GERMQ=46;MBQ=20,20;MFRL=189,182;MMQ=60,60;MPOS=31;NALOD=1.2;NLOD=4.08;POPAF=6;TLOD=10.52;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=GALNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB	0|0:18,0:0.06:18:4,0:5,0:14,0:0|1:230263045_TTAGAAGCCAGTAAGGCCA_T:230263045:4,14,0,0	0|1:18,3:0.203:21:7,2:1,0:11,2:0|1:230263045_TTAGAAGCCAGTAAGGCCA_T:230263045:7,11,1,2
chr1	230426257	.	A	G	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,7|3,3;DP=23;ECNT=1;GERMQ=29;MBQ=20,20;MFRL=155,110;MMQ=60,60;MPOS=34;NALOD=0.954;NLOD=2.41;POPAF=6;TLOD=11.53;ANNOVAR_DATE=2020-06-08;Func.refGene=UTR5;Gene.refGene=PGBD5;GeneDetail.refGene=NM_001258311:c.-329T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs1028308966;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:13,0:0.1:13:4,0:4,0:8,0:8,5,0,0	0/1:4,6:0.571:10:0,3:2,0:2,3:2,2,3,3
chr1	230691298	.	CT	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=10,0|4,2;DP=17;ECNT=1;GERMQ=32;MBQ=37,20;MFRL=237,185;MMQ=60,60;MPOS=25;NALOD=0.954;NLOD=2.41;POPAF=6;RPA=7,6;RU=T;STR;STRQ=93;TLOD=9.03;ANNOVAR_DATE=2020-06-08;Func.refGene=intronic;Gene.refGene=COG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST4_score=.;VEST4_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;MetaRNN_score=.;MetaRNN_rankscore=.;MetaRNN_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;MVP_score=.;MVP_rankscore=.;MPC_score=.;MPC_rankscore=.;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=.;DEOGEN2_rankscore=.;DEOGEN2_pred=.;BayesDel_addAF_score=.;BayesDel_addAF_rankscore=.;BayesDel_addAF_pred=.;BayesDel_noAF_score=.;BayesDel_noAF_rankscore=.;BayesDel_noAF_pred=.;ClinPred_score=.;ClinPred_rankscore=.;ClinPred_pred=.;LIST-S2_score=.;LIST-S2_rankscore=.;LIST-S2_pred=.;Aloft_pred=.;Aloft_Confidence=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_score=.;fathmm-XF_coding_rankscore=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-raw_coding_rankscore=.;Eigen-PC-raw_coding=.;Eigen-PC-raw_coding_rankscore=.;GenoCanyon_score=.;GenoCanyon_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_rankscore=.;integrated_confidence_value=.;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP30way_mammalian=.;phyloP30way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons30way_mammalian=.;phastCons30way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=.;AF_raw=.;AF_male=.;AF_female=.;AF_afr=.;AF_ami=.;AF_amr=.;AF_asj=.;AF_eas=.;AF_fin=.;AF_nfe=.;AF_oth=.;AF_sas=.;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:8,0:0.1:8:5,0:3,0:8,0:8,0,0,0	0/1:2,6:0.636:8:2,2:0,2:2,4:2,0,4,2
chr1	230843592	.	C	T	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=58,64|20,22;DP=171;ECNT=2;GERMQ=93;MBQ=20,20;MFRL=158,148;MMQ=60,60;MPOS=31;NALOD=1.58;NLOD=10.83;POPAF=4.61;TLOD=89.65;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=C1orf198;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=C1orf198:NM_001136495:exon3:c.G299A:p.R100Q,C1orf198:NM_032800:exon3:c.G689A:p.R230Q,C1orf198:NM_001136494:exon5:c.G575A:p.R192Q;cytoBand=1q42.2;SIFT_score=0.0;SIFT_converted_rankscore=0.913;SIFT_pred=D;SIFT4G_score=0.0;SIFT4G_converted_rankscore=0.928;SIFT4G_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_rankscore=0.906;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.998;Polyphen2_HVAR_rankscore=0.886;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.65;MutationAssessor_rankscore=0.776;MutationAssessor_pred=M;FATHMM_score=0.35;FATHMM_converted_rankscore=0.605;FATHMM_pred=T;PROVEAN_score=-1.82;PROVEAN_converted_rankscore=0.741;PROVEAN_pred=N;VEST4_score=0.604;VEST4_rankscore=0.758;MetaSVM_score=-0.179;MetaSVM_rankscore=0.782;MetaSVM_pred=T;MetaLR_score=0.387;MetaLR_rankscore=0.742;MetaLR_pred=T;MetaRNN_score=0.539;MetaRNN_rankscore=0.636;MetaRNN_pred=D;M-CAP_score=0.054;M-CAP_rankscore=0.656;M-CAP_pred=D;REVEL_score=0.360;REVEL_rankscore=0.684;MutPred_score=0.218;MutPred_rankscore=0.139;MVP_score=0.782;MVP_rankscore=0.780;MPC_score=0.649;MPC_rankscore=0.582;PrimateAI_score=.;PrimateAI_rankscore=.;PrimateAI_pred=.;DEOGEN2_score=0.132;DEOGEN2_rankscore=0.715;DEOGEN2_pred=T;BayesDel_addAF_score=0.101;BayesDel_addAF_rankscore=0.644;BayesDel_addAF_pred=D;BayesDel_noAF_score=0.004;BayesDel_noAF_rankscore=0.706;BayesDel_noAF_pred=D;ClinPred_score=0.991;ClinPred_rankscore=0.812;ClinPred_pred=D;LIST-S2_score=0.916;LIST-S2_rankscore=0.698;LIST-S2_pred=D;Aloft_pred=.\x3b.\x3b.\x3b.\x3b;Aloft_Confidence=.\x3b.\x3b.\x3b.\x3b;CADD_raw=4.236;CADD_raw_rankscore=0.866;CADD_phred=29.0;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.788;fathmm-MKL_coding_pred=D;fathmm-XF_coding_score=0.871;fathmm-XF_coding_rankscore=0.792;fathmm-XF_coding_pred=D;Eigen-raw_coding=0.714;Eigen-raw_coding_rankscore=0.806;Eigen-PC-raw_coding=0.663;Eigen-PC-raw_coding_rankscore=0.796;GenoCanyon_score=1.000;GenoCanyon_rankscore=0.748;integrated_fitCons_score=0.707;integrated_fitCons_rankscore=0.731;integrated_confidence_value=0;LINSIGHT=.;LINSIGHT_rankscore=.;GERP++_NR=4.61;GERP++_RS=4.61;GERP++_RS_rankscore=0.567;phyloP100way_vertebrate=7.529;phyloP100way_vertebrate_rankscore=0.808;phyloP30way_mammalian=0.962;phyloP30way_mammalian_rankscore=0.354;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.716;phastCons30way_mammalian=0.995;phastCons30way_mammalian_rankscore=0.577;SiPhy_29way_logOdds=17.439;SiPhy_29way_logOdds_rankscore=0.875;Interpro_domain=.\x3b.\x3b.\x3b.;GTEx_V8_gene=.;GTEx_V8_tissue=.;AF=6.976e-06;AF_raw=6.974e-06;AF_male=1.439e-05;AF_female=0;AF_afr=0;AF_ami=0;AF_amr=0;AF_asj=0;AF_eas=0;AF_fin=0;AF_nfe=1.548e-05;AF_oth=0;AF_sas=0;ALL.sites.2015_08=.;AFR.sites.2015_08=.;ALL.sites.2015_08=.;EUR.sites.2015_08=.;AMR.sites.2015_08=.;EUR.sites.2015_08=.;EAS.sites.2015_08=.;SAS.sites.2015_08=.;avsnp150=rs768003492;ExAC_ALL=8.253e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.502e-05;ExAC_OTH=0;ExAC_SAS=0;ALLELE_END	GT:AD:AF:DP:F1R2:F2R1:FAD:SB	0/0:56,0:0.026:56:18,0:15,0:36,0:25,31,0,0	0/1:66,42:0.397:108:19,13:16,9:37,24:33,33,20,22
chr1	230995820	.	CA	C	.	PASS	AS_FilterStatus=SITE;AS_SB_TABLE=76,81|30,32;DP=235;ECNT=1;GERMQ=92;MBQ=20,20;MFRL=163,146;MMQ=60,60;MPOS=38;NALOD=0.085;NLOD=10.93;POPAF=3.1;RPA=9,8;RU=A;STR;STRQ=93;TLOD=53.92;ANNOVAR_DATE=2020-06-08;Func.refGene=exonic;Gene.refGene=ARV1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=ARV1:NM_022786:exon4:c.510delA:p.K173Sfs*8,ARV1:NM_001346992:exon5:c.609delA:p.K206Sfs*8;cytoBand=1q42.2;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;SIFT4G_score=.;SIFT4G_converted_rankscore=.;SIFT4G_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscor