Mercurial > repos > iuc > sansa_annotate
comparison test-data/db.vcf @ 0:fb00426402b0 draft
"planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/sansa commit b9066cb246cbae9a24020a79cf53d2dd4462b77d"
| author | iuc |
|---|---|
| date | Mon, 25 Jan 2021 17:50:47 +0000 |
| parents | |
| children |
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| -1:000000000000 | 0:fb00426402b0 |
|---|---|
| 1 ##fileformat=VCFv4.2 | |
| 2 ##FILTER=<ID=PASS,Description="All filters passed"> | |
| 3 ##ALT=<ID=BND,Description="Unresolved non-reference breakpoint junction"> | |
| 4 ##ALT=<ID=CPX,Description="Complex SV"> | |
| 5 ##ALT=<ID=CTX,Description="Reciprocal translocation"> | |
| 6 ##ALT=<ID=DEL,Description="Deletion"> | |
| 7 ##ALT=<ID=DUP,Description="Duplication"> | |
| 8 ##ALT=<ID=INS,Description="Insertion"> | |
| 9 ##ALT=<ID=INS:ME,Description="Mobile element insertion of unspecified ME class"> | |
| 10 ##ALT=<ID=INS:ME:ALU,Description="Alu element insertion"> | |
| 11 ##ALT=<ID=INS:ME:LINE1,Description="LINE1 element insertion"> | |
| 12 ##ALT=<ID=INS:ME:SVA,Description="SVA element insertion"> | |
| 13 ##ALT=<ID=INS:UNK,Description="Sequence insertion of unspecified origin"> | |
| 14 ##ALT=<ID=INV,Description="Inversion"> | |
| 15 ##CPX_TYPE_CCR="Complex chromosomal rearrangement, involving two or more chromosomes and multiple SV signatures." | |
| 16 ##CPX_TYPE_INS_iDEL="Insertion with deletion at insertion site." | |
| 17 ##CPX_TYPE_INVdel="Complex inversion with 3' flanking deletion." | |
| 18 ##CPX_TYPE_INVdup="Complex inversion with 3' flanking duplication." | |
| 19 ##CPX_TYPE_dDUP="Dispersed duplication." | |
| 20 ##CPX_TYPE_dDUP_iDEL="Dispersed duplication with deletion at insertion site." | |
| 21 ##CPX_TYPE_delINVdel="Complex inversion with 5' and 3' flanking deletions." | |
| 22 ##CPX_TYPE_delINVdup="Complex inversion with 5' flanking deletion and 3' flanking duplication." | |
| 23 ##CPX_TYPE_delINV="Complex inversion with 5' flanking deletion." | |
| 24 ##CPX_TYPE_dupINVdel="Complex inversion with 5' flanking duplication and 3' flanking deletion." | |
| 25 ##CPX_TYPE_dupINVdup="Complex inversion with 5' and 3' flanking duplications." | |
| 26 ##CPX_TYPE_dupINV="Complex inversion with 5' flanking duplication." | |
| 27 ##CPX_TYPE_piDUP_FR="Palindromic inverted tandem duplication, forward-reverse orientation." | |
| 28 ##CPX_TYPE_piDUP_RF="Palindromic inverted tandem duplication, reverse-forward orientation." | |
| 29 ##FILTER=<ID=LOW_CALL_RATE,Description="Site does not meet minimum requirements for fraction of PCR- samples with non-null genotypes. Flags sites more prone to false discoveries."> | |
| 30 ##FILTER=<ID=MULTIALLELIC,Description="Multiallelic site"> | |
| 31 ##FILTER=<ID=PCRPLUS_ENRICHED,Description="Site enriched for non-reference genotypes among PCR+ samples. Likely reflects technical batch effects. All PCR- samples have been assigned null GTs for these sites.>"> | |
| 32 ##FILTER=<ID=UNRESOLVED,Description="Variant is unresolved"> | |
| 33 ##FILTER=<ID=UNSTABLE_AF_PCRMINUS,Description="Allele frequency for this variant in PCR- samples is sensitive to choice of GQ filtering thresholds. All PCR- samples have been assigned null GTs for these sites.>"> | |
| 34 ##FORMAT=<ID=EV,Number=1,Type=String,Description="Classes of evidence supporting final genotype"> | |
| 35 ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality"> | |
| 36 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> | |
| 37 ##FORMAT=<ID=PE_GQ,Number=1,Type=Integer,Description="Paired-end genotype quality"> | |
| 38 ##FORMAT=<ID=PE_GT,Number=1,Type=Integer,Description="Paired-end genotype"> | |
| 39 ##FORMAT=<ID=RD_CN,Number=1,Type=Integer,Description="Predicted copy state"> | |
| 40 ##FORMAT=<ID=RD_GQ,Number=1,Type=Integer,Description="Read-depth genotype quality"> | |
| 41 ##FORMAT=<ID=SR_GQ,Number=1,Type=Integer,Description="Split read genotype quality"> | |
| 42 ##FORMAT=<ID=SR_GT,Number=1,Type=Integer,Description="Split-read genotype"> | |
| 43 ##INFO=<ID=ALGORITHMS,Number=.,Type=String,Description="Source algorithms"> | |
| 44 ##INFO=<ID=BOTHSIDES_SUPPORT,Number=0,Type=Flag,Description="Variant has read-level support for both sides of breakpoint. Indicates higher-confidence variants."> | |
| 45 ##INFO=<ID=CHR2,Number=1,Type=String,Description="Chromosome of second breakpoint position."> | |
| 46 ##INFO=<ID=CPX_INTERVALS,Number=.,Type=String,Description="Genomic intervals constituting complex variant."> | |
| 47 ##INFO=<ID=CPX_TYPE,Number=1,Type=String,Description="Class of complex variant."> | |
| 48 ##INFO=<ID=END2,Number=1,Type=Integer,Description="End coordinate of second breakpoint position."> | |
| 49 ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the structural variant"> | |
| 50 ##INFO=<ID=EVIDENCE,Number=.,Type=String,Description="Classes of random forest support."> | |
| 51 ##INFO=<ID=HIGH_SR_BACKGROUND,Number=0,Type=Flag,Description="Suspicious accumulation of split reads in predicted non-carrier samples. Flags sites more prone to false discoveries and where breakpoint precision is reduced."> | |
| 52 ##INFO=<ID=PCRPLUS_DEPLETED,Number=0,Type=Flag,Description="Site depleted for non-reference genotypes among PCR+ samples. Likely reflects technical batch effects. All PCR+ samples have been assigned null GTs for these sites."> | |
| 53 ##INFO=<ID=PESR_GT_OVERDISPERSION,Number=0,Type=Flag,Description="PESR genotyping data is overdispersed. Flags sites where genotypes are likely noisier."> | |
| 54 ##INFO=<ID=POS2,Number=1,Type=Integer,Description="Start coordinate of second breakpoint position."> | |
| 55 ##INFO=<ID=PROTEIN_CODING__COPY_GAIN,Number=.,Type=String,Description="Gene(s) on which the SV is predicted to have a copy-gain effect."> | |
| 56 ##INFO=<ID=PROTEIN_CODING__DUP_LOF,Number=.,Type=String,Description="Gene(s) on which the SV is predicted to have a loss-of-function effect via intragenic exonic duplication."> | |
| 57 ##INFO=<ID=PROTEIN_CODING__DUP_PARTIAL,Number=.,Type=String,Description="Gene(s) which are partially overlapped by an SV's duplication, such that an unaltered copy is preserved."> | |
| 58 ##INFO=<ID=PROTEIN_CODING__INTERGENIC,Number=0,Type=Flag,Description="SV does not overlap coding sequence."> | |
| 59 ##INFO=<ID=PROTEIN_CODING__INTRONIC,Number=.,Type=String,Description="Gene(s) where the SV was found to lie entirely within an intron."> | |
| 60 ##INFO=<ID=PROTEIN_CODING__INV_SPAN,Number=.,Type=String,Description="Gene(s) which are entirely spanned by an SV's inversion."> | |
| 61 ##INFO=<ID=PROTEIN_CODING__LOF,Number=.,Type=String,Description="Gene(s) on which the SV is predicted to have a loss-of-function effect."> | |
| 62 ##INFO=<ID=PROTEIN_CODING__MSV_EXON_OVR,Number=.,Type=String,Description="Gene(s) on which the multiallelic SV would be predicted to have a LOF, DUP_LOF, COPY_GAIN, or DUP_PARTIAL annotation if the SV were biallelic."> | |
| 63 ##INFO=<ID=PROTEIN_CODING__NEAREST_TSS,Number=.,Type=String,Description="Nearest transcription start site to intragenic variants."> | |
| 64 ##INFO=<ID=PROTEIN_CODING__PROMOTER,Number=.,Type=String,Description="Genes whose promoter sequence (1 kb) was disrupted by SV."> | |
| 65 ##INFO=<ID=PROTEIN_CODING__UTR,Number=.,Type=String,Description="Gene(s) for which the SV is predicted to disrupt a UTR."> | |
| 66 ##INFO=<ID=SOURCE,Number=1,Type=String,Description="Source of inserted sequence."> | |
| 67 ##INFO=<ID=STRANDS,Number=1,Type=String,Description="Breakpoint strandedness [++,+-,-+,--]"> | |
| 68 ##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="SV length"> | |
| 69 ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> | |
| 70 ##INFO=<ID=UNRESOLVED_TYPE,Number=1,Type=String,Description="Class of unresolved variant."> | |
| 71 ##INFO=<ID=UNSTABLE_AF_PCRPLUS,Number=0,Type=Flag,Description="Allele frequency for this variant in PCR+ samples is sensitive to choice of GQ filtering thresholds. All PCR+ samples have been assigned null GTs for these sites."> | |
| 72 ##INFO=<ID=VARIABLE_ACROSS_BATCHES,Number=0,Type=Flag,Description="Site appears at variable frequencies across batches. Accuracy of allele frequency estimates for these sites may be reduced."> | |
| 73 ##contig=<ID=1,length=249250621> | |
| 74 ##contig=<ID=2,length=243199373> | |
| 75 ##contig=<ID=3,length=198022430> | |
| 76 ##contig=<ID=4,length=191154276> | |
| 77 ##contig=<ID=5,length=180915260> | |
| 78 ##contig=<ID=6,length=171115067> | |
| 79 ##contig=<ID=7,length=159138663> | |
| 80 ##contig=<ID=8,length=146364022> | |
| 81 ##contig=<ID=9,length=141213431> | |
| 82 ##contig=<ID=10,length=135534747> | |
| 83 ##contig=<ID=11,length=135006516> | |
| 84 ##contig=<ID=12,length=133851895> | |
| 85 ##contig=<ID=13,length=115169878> | |
| 86 ##contig=<ID=14,length=107349540> | |
| 87 ##contig=<ID=15,length=102531392> | |
| 88 ##contig=<ID=16,length=90354753> | |
| 89 ##contig=<ID=17,length=81195210> | |
| 90 ##contig=<ID=18,length=78077248> | |
| 91 ##contig=<ID=19,length=59128983> | |
| 92 ##contig=<ID=20,length=63025520> | |
| 93 ##contig=<ID=21,length=48129895> | |
| 94 ##contig=<ID=22,length=51304566> | |
| 95 ##contig=<ID=X,length=155270560> | |
| 96 ##contig=<ID=Y,length=59373566> | |
| 97 ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles genotyped (for biallelic sites) or individuals with copy-state estimates (for multiallelic sites)."> | |
| 98 ##INFO=<ID=AC,Number=A,Type=Integer,Description="Number of non-reference alleles observed (for biallelic sites) or individuals at each copy state (for multiallelic sites)."> | |
| 99 ##INFO=<ID=AF,Number=A,Type=Float,Description="Allele frequency (for biallelic sites) or copy-state frequency (for multiallelic sites)."> | |
| 100 ##INFO=<ID=N_BI_GENOS,Number=1,Type=Integer,Description="Total number of individuals with complete genotypes (biallelic sites only)."> | |
| 101 ##INFO=<ID=N_HOMREF,Number=1,Type=Integer,Description="Number of individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 102 ##INFO=<ID=N_HET,Number=1,Type=Integer,Description="Number of individuals with heterozygous genotypes (biallelic sites only)."> | |
| 103 ##INFO=<ID=N_HOMALT,Number=1,Type=Integer,Description="Number of individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 104 ##INFO=<ID=FREQ_HOMREF,Number=1,Type=Float,Description="Homozygous reference genotype frequency (biallelic sites only)."> | |
| 105 ##INFO=<ID=FREQ_HET,Number=1,Type=Float,Description="Heterozygous genotype frequency (biallelic sites only)."> | |
| 106 ##INFO=<ID=FREQ_HOMALT,Number=1,Type=Float,Description="Homozygous alternate genotype frequency (biallelic sites only)."> | |
| 107 ##INFO=<ID=MALE_AN,Number=1,Type=Integer,Description="Total number of MALE alleles genotyped (for biallelic sites) or MALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 108 ##INFO=<ID=MALE_AC,Number=A,Type=Integer,Description="Number of non-reference MALE alleles observed (for biallelic sites) or MALE individuals at each copy state (for multiallelic sites)."> | |
| 109 ##INFO=<ID=MALE_AF,Number=A,Type=Float,Description="MALE allele frequency (for biallelic sites) or MALE copy-state frequency (for multiallelic sites)."> | |
| 110 ##INFO=<ID=MALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of MALE individuals with complete genotypes (biallelic sites only)."> | |
| 111 ##INFO=<ID=MALE_N_HOMREF,Number=1,Type=Integer,Description="Number of MALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 112 ##INFO=<ID=MALE_N_HET,Number=1,Type=Integer,Description="Number of MALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 113 ##INFO=<ID=MALE_N_HOMALT,Number=1,Type=Integer,Description="Number of MALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 114 ##INFO=<ID=MALE_FREQ_HOMREF,Number=1,Type=Float,Description="MALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 115 ##INFO=<ID=MALE_FREQ_HET,Number=1,Type=Float,Description="MALE heterozygous genotype frequency (biallelic sites only)."> | |
| 116 ##INFO=<ID=MALE_FREQ_HOMALT,Number=1,Type=Float,Description="MALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 117 ##INFO=<ID=MALE_N_HEMIREF,Number=1,Type=Integer,Description="Number of MALE individuals with hemizygous reference genotypes (biallelic sites only)."> | |
| 118 ##INFO=<ID=MALE_N_HEMIALT,Number=1,Type=Integer,Description="Number of MALE individuals with hemizygous alternate genotypes (biallelic sites only)."> | |
| 119 ##INFO=<ID=MALE_FREQ_HEMIREF,Number=1,Type=Float,Description="MALE hemizygous reference genotype frequency (biallelic sites only)."> | |
| 120 ##INFO=<ID=MALE_FREQ_HEMIALT,Number=1,Type=Float,Description="MALE hemizygous alternate genotype frequency (biallelic sites only)."> | |
| 121 ##INFO=<ID=PAR,Number=0,Type=Flag,Description="Variant overlaps pseudoautosomal region."> | |
| 122 ##INFO=<ID=FEMALE_AN,Number=1,Type=Integer,Description="Total number of FEMALE alleles genotyped (for biallelic sites) or FEMALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 123 ##INFO=<ID=FEMALE_AC,Number=A,Type=Integer,Description="Number of non-reference FEMALE alleles observed (for biallelic sites) or FEMALE individuals at each copy state (for multiallelic sites)."> | |
| 124 ##INFO=<ID=FEMALE_AF,Number=A,Type=Float,Description="FEMALE allele frequency (for biallelic sites) or FEMALE copy-state frequency (for multiallelic sites)."> | |
| 125 ##INFO=<ID=FEMALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of FEMALE individuals with complete genotypes (biallelic sites only)."> | |
| 126 ##INFO=<ID=FEMALE_N_HOMREF,Number=1,Type=Integer,Description="Number of FEMALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 127 ##INFO=<ID=FEMALE_N_HET,Number=1,Type=Integer,Description="Number of FEMALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 128 ##INFO=<ID=FEMALE_N_HOMALT,Number=1,Type=Integer,Description="Number of FEMALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 129 ##INFO=<ID=FEMALE_FREQ_HOMREF,Number=1,Type=Float,Description="FEMALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 130 ##INFO=<ID=FEMALE_FREQ_HET,Number=1,Type=Float,Description="FEMALE heterozygous genotype frequency (biallelic sites only)."> | |
| 131 ##INFO=<ID=FEMALE_FREQ_HOMALT,Number=1,Type=Float,Description="FEMALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 132 ##INFO=<ID=POPMAX_AF,Number=1,Type=Float,Description="Maximum allele frequency across any population (biallelic sites only)."> | |
| 133 ##INFO=<ID=AFR_AN,Number=1,Type=Integer,Description="Total number of AFR alleles genotyped (for biallelic sites) or AFR individuals with copy-state estimates (for multiallelic sites)."> | |
| 134 ##INFO=<ID=AFR_AC,Number=A,Type=Integer,Description="Number of non-reference AFR alleles observed (for biallelic sites) or AFR individuals at each copy state (for multiallelic sites)."> | |
| 135 ##INFO=<ID=AFR_AF,Number=A,Type=Float,Description="AFR allele frequency (for biallelic sites) or AFR copy-state frequency (for multiallelic sites)."> | |
| 136 ##INFO=<ID=AFR_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of AFR individuals with complete genotypes (biallelic sites only)."> | |
| 137 ##INFO=<ID=AFR_N_HOMREF,Number=1,Type=Integer,Description="Number of AFR individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 138 ##INFO=<ID=AFR_N_HET,Number=1,Type=Integer,Description="Number of AFR individuals with heterozygous genotypes (biallelic sites only)."> | |
| 139 ##INFO=<ID=AFR_N_HOMALT,Number=1,Type=Integer,Description="Number of AFR individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 140 ##INFO=<ID=AFR_FREQ_HOMREF,Number=1,Type=Float,Description="AFR homozygous reference genotype frequency (biallelic sites only)."> | |
| 141 ##INFO=<ID=AFR_FREQ_HET,Number=1,Type=Float,Description="AFR heterozygous genotype frequency (biallelic sites only)."> | |
| 142 ##INFO=<ID=AFR_FREQ_HOMALT,Number=1,Type=Float,Description="AFR homozygous alternate genotype frequency (biallelic sites only)."> | |
| 143 ##INFO=<ID=AFR_MALE_AN,Number=1,Type=Integer,Description="Total number of AFR MALE alleles genotyped (for biallelic sites) or AFR MALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 144 ##INFO=<ID=AFR_MALE_AC,Number=A,Type=Integer,Description="Number of non-reference AFR MALE alleles observed (for biallelic sites) or AFR MALE individuals at each copy state (for multiallelic sites)."> | |
| 145 ##INFO=<ID=AFR_MALE_AF,Number=A,Type=Float,Description="AFR MALE allele frequency (for biallelic sites) or AFR MALE copy-state frequency (for multiallelic sites)."> | |
| 146 ##INFO=<ID=AFR_MALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of AFR MALE individuals with complete genotypes (biallelic sites only)."> | |
| 147 ##INFO=<ID=AFR_MALE_N_HOMREF,Number=1,Type=Integer,Description="Number of AFR MALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 148 ##INFO=<ID=AFR_MALE_N_HET,Number=1,Type=Integer,Description="Number of AFR MALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 149 ##INFO=<ID=AFR_MALE_N_HOMALT,Number=1,Type=Integer,Description="Number of AFR MALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 150 ##INFO=<ID=AFR_MALE_FREQ_HOMREF,Number=1,Type=Float,Description="AFR MALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 151 ##INFO=<ID=AFR_MALE_FREQ_HET,Number=1,Type=Float,Description="AFR MALE heterozygous genotype frequency (biallelic sites only)."> | |
| 152 ##INFO=<ID=AFR_MALE_FREQ_HOMALT,Number=1,Type=Float,Description="AFR MALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 153 ##INFO=<ID=AFR_MALE_N_HEMIREF,Number=1,Type=Integer,Description="Number of AFR MALE individuals with hemizygous reference genotypes (biallelic sites only)."> | |
| 154 ##INFO=<ID=AFR_MALE_N_HEMIALT,Number=1,Type=Integer,Description="Number of AFR MALE individuals with hemizygous alternate genotypes (biallelic sites only)."> | |
| 155 ##INFO=<ID=AFR_MALE_FREQ_HEMIREF,Number=1,Type=Float,Description="AFR MALE hemizygous reference genotype frequency (biallelic sites only)."> | |
| 156 ##INFO=<ID=AFR_MALE_FREQ_HEMIALT,Number=1,Type=Float,Description="AFR MALE hemizygous alternate genotype frequency (biallelic sites only)."> | |
| 157 ##INFO=<ID=AFR_FEMALE_AN,Number=1,Type=Integer,Description="Total number of AFR FEMALE alleles genotyped (for biallelic sites) or AFR FEMALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 158 ##INFO=<ID=AFR_FEMALE_AC,Number=A,Type=Integer,Description="Number of non-reference AFR FEMALE alleles observed (for biallelic sites) or AFR FEMALE individuals at each copy state (for multiallelic sites)."> | |
| 159 ##INFO=<ID=AFR_FEMALE_AF,Number=A,Type=Float,Description="AFR FEMALE allele frequency (for biallelic sites) or AFR FEMALE copy-state frequency (for multiallelic sites)."> | |
| 160 ##INFO=<ID=AFR_FEMALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of AFR FEMALE individuals with complete genotypes (biallelic sites only)."> | |
| 161 ##INFO=<ID=AFR_FEMALE_N_HOMREF,Number=1,Type=Integer,Description="Number of AFR FEMALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 162 ##INFO=<ID=AFR_FEMALE_N_HET,Number=1,Type=Integer,Description="Number of AFR FEMALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 163 ##INFO=<ID=AFR_FEMALE_N_HOMALT,Number=1,Type=Integer,Description="Number of AFR FEMALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 164 ##INFO=<ID=AFR_FEMALE_FREQ_HOMREF,Number=1,Type=Float,Description="AFR FEMALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 165 ##INFO=<ID=AFR_FEMALE_FREQ_HET,Number=1,Type=Float,Description="AFR FEMALE heterozygous genotype frequency (biallelic sites only)."> | |
| 166 ##INFO=<ID=AFR_FEMALE_FREQ_HOMALT,Number=1,Type=Float,Description="AFR FEMALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 167 ##INFO=<ID=AMR_AN,Number=1,Type=Integer,Description="Total number of AMR alleles genotyped (for biallelic sites) or AMR individuals with copy-state estimates (for multiallelic sites)."> | |
| 168 ##INFO=<ID=AMR_AC,Number=A,Type=Integer,Description="Number of non-reference AMR alleles observed (for biallelic sites) or AMR individuals at each copy state (for multiallelic sites)."> | |
| 169 ##INFO=<ID=AMR_AF,Number=A,Type=Float,Description="AMR allele frequency (for biallelic sites) or AMR copy-state frequency (for multiallelic sites)."> | |
| 170 ##INFO=<ID=AMR_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of AMR individuals with complete genotypes (biallelic sites only)."> | |
| 171 ##INFO=<ID=AMR_N_HOMREF,Number=1,Type=Integer,Description="Number of AMR individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 172 ##INFO=<ID=AMR_N_HET,Number=1,Type=Integer,Description="Number of AMR individuals with heterozygous genotypes (biallelic sites only)."> | |
| 173 ##INFO=<ID=AMR_N_HOMALT,Number=1,Type=Integer,Description="Number of AMR individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 174 ##INFO=<ID=AMR_FREQ_HOMREF,Number=1,Type=Float,Description="AMR homozygous reference genotype frequency (biallelic sites only)."> | |
| 175 ##INFO=<ID=AMR_FREQ_HET,Number=1,Type=Float,Description="AMR heterozygous genotype frequency (biallelic sites only)."> | |
| 176 ##INFO=<ID=AMR_FREQ_HOMALT,Number=1,Type=Float,Description="AMR homozygous alternate genotype frequency (biallelic sites only)."> | |
| 177 ##INFO=<ID=AMR_MALE_AN,Number=1,Type=Integer,Description="Total number of AMR MALE alleles genotyped (for biallelic sites) or AMR MALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 178 ##INFO=<ID=AMR_MALE_AC,Number=A,Type=Integer,Description="Number of non-reference AMR MALE alleles observed (for biallelic sites) or AMR MALE individuals at each copy state (for multiallelic sites)."> | |
| 179 ##INFO=<ID=AMR_MALE_AF,Number=A,Type=Float,Description="AMR MALE allele frequency (for biallelic sites) or AMR MALE copy-state frequency (for multiallelic sites)."> | |
| 180 ##INFO=<ID=AMR_MALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of AMR MALE individuals with complete genotypes (biallelic sites only)."> | |
| 181 ##INFO=<ID=AMR_MALE_N_HOMREF,Number=1,Type=Integer,Description="Number of AMR MALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 182 ##INFO=<ID=AMR_MALE_N_HET,Number=1,Type=Integer,Description="Number of AMR MALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 183 ##INFO=<ID=AMR_MALE_N_HOMALT,Number=1,Type=Integer,Description="Number of AMR MALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 184 ##INFO=<ID=AMR_MALE_FREQ_HOMREF,Number=1,Type=Float,Description="AMR MALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 185 ##INFO=<ID=AMR_MALE_FREQ_HET,Number=1,Type=Float,Description="AMR MALE heterozygous genotype frequency (biallelic sites only)."> | |
| 186 ##INFO=<ID=AMR_MALE_FREQ_HOMALT,Number=1,Type=Float,Description="AMR MALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 187 ##INFO=<ID=AMR_MALE_N_HEMIREF,Number=1,Type=Integer,Description="Number of AMR MALE individuals with hemizygous reference genotypes (biallelic sites only)."> | |
| 188 ##INFO=<ID=AMR_MALE_N_HEMIALT,Number=1,Type=Integer,Description="Number of AMR MALE individuals with hemizygous alternate genotypes (biallelic sites only)."> | |
| 189 ##INFO=<ID=AMR_MALE_FREQ_HEMIREF,Number=1,Type=Float,Description="AMR MALE hemizygous reference genotype frequency (biallelic sites only)."> | |
| 190 ##INFO=<ID=AMR_MALE_FREQ_HEMIALT,Number=1,Type=Float,Description="AMR MALE hemizygous alternate genotype frequency (biallelic sites only)."> | |
| 191 ##INFO=<ID=AMR_FEMALE_AN,Number=1,Type=Integer,Description="Total number of AMR FEMALE alleles genotyped (for biallelic sites) or AMR FEMALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 192 ##INFO=<ID=AMR_FEMALE_AC,Number=A,Type=Integer,Description="Number of non-reference AMR FEMALE alleles observed (for biallelic sites) or AMR FEMALE individuals at each copy state (for multiallelic sites)."> | |
| 193 ##INFO=<ID=AMR_FEMALE_AF,Number=A,Type=Float,Description="AMR FEMALE allele frequency (for biallelic sites) or AMR FEMALE copy-state frequency (for multiallelic sites)."> | |
| 194 ##INFO=<ID=AMR_FEMALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of AMR FEMALE individuals with complete genotypes (biallelic sites only)."> | |
| 195 ##INFO=<ID=AMR_FEMALE_N_HOMREF,Number=1,Type=Integer,Description="Number of AMR FEMALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 196 ##INFO=<ID=AMR_FEMALE_N_HET,Number=1,Type=Integer,Description="Number of AMR FEMALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 197 ##INFO=<ID=AMR_FEMALE_N_HOMALT,Number=1,Type=Integer,Description="Number of AMR FEMALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 198 ##INFO=<ID=AMR_FEMALE_FREQ_HOMREF,Number=1,Type=Float,Description="AMR FEMALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 199 ##INFO=<ID=AMR_FEMALE_FREQ_HET,Number=1,Type=Float,Description="AMR FEMALE heterozygous genotype frequency (biallelic sites only)."> | |
| 200 ##INFO=<ID=AMR_FEMALE_FREQ_HOMALT,Number=1,Type=Float,Description="AMR FEMALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 201 ##INFO=<ID=EAS_AN,Number=1,Type=Integer,Description="Total number of EAS alleles genotyped (for biallelic sites) or EAS individuals with copy-state estimates (for multiallelic sites)."> | |
| 202 ##INFO=<ID=EAS_AC,Number=A,Type=Integer,Description="Number of non-reference EAS alleles observed (for biallelic sites) or EAS individuals at each copy state (for multiallelic sites)."> | |
| 203 ##INFO=<ID=EAS_AF,Number=A,Type=Float,Description="EAS allele frequency (for biallelic sites) or EAS copy-state frequency (for multiallelic sites)."> | |
| 204 ##INFO=<ID=EAS_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of EAS individuals with complete genotypes (biallelic sites only)."> | |
| 205 ##INFO=<ID=EAS_N_HOMREF,Number=1,Type=Integer,Description="Number of EAS individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 206 ##INFO=<ID=EAS_N_HET,Number=1,Type=Integer,Description="Number of EAS individuals with heterozygous genotypes (biallelic sites only)."> | |
| 207 ##INFO=<ID=EAS_N_HOMALT,Number=1,Type=Integer,Description="Number of EAS individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 208 ##INFO=<ID=EAS_FREQ_HOMREF,Number=1,Type=Float,Description="EAS homozygous reference genotype frequency (biallelic sites only)."> | |
| 209 ##INFO=<ID=EAS_FREQ_HET,Number=1,Type=Float,Description="EAS heterozygous genotype frequency (biallelic sites only)."> | |
| 210 ##INFO=<ID=EAS_FREQ_HOMALT,Number=1,Type=Float,Description="EAS homozygous alternate genotype frequency (biallelic sites only)."> | |
| 211 ##INFO=<ID=EAS_MALE_AN,Number=1,Type=Integer,Description="Total number of EAS MALE alleles genotyped (for biallelic sites) or EAS MALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 212 ##INFO=<ID=EAS_MALE_AC,Number=A,Type=Integer,Description="Number of non-reference EAS MALE alleles observed (for biallelic sites) or EAS MALE individuals at each copy state (for multiallelic sites)."> | |
| 213 ##INFO=<ID=EAS_MALE_AF,Number=A,Type=Float,Description="EAS MALE allele frequency (for biallelic sites) or EAS MALE copy-state frequency (for multiallelic sites)."> | |
| 214 ##INFO=<ID=EAS_MALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of EAS MALE individuals with complete genotypes (biallelic sites only)."> | |
| 215 ##INFO=<ID=EAS_MALE_N_HOMREF,Number=1,Type=Integer,Description="Number of EAS MALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 216 ##INFO=<ID=EAS_MALE_N_HET,Number=1,Type=Integer,Description="Number of EAS MALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 217 ##INFO=<ID=EAS_MALE_N_HOMALT,Number=1,Type=Integer,Description="Number of EAS MALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 218 ##INFO=<ID=EAS_MALE_FREQ_HOMREF,Number=1,Type=Float,Description="EAS MALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 219 ##INFO=<ID=EAS_MALE_FREQ_HET,Number=1,Type=Float,Description="EAS MALE heterozygous genotype frequency (biallelic sites only)."> | |
| 220 ##INFO=<ID=EAS_MALE_FREQ_HOMALT,Number=1,Type=Float,Description="EAS MALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 221 ##INFO=<ID=EAS_MALE_N_HEMIREF,Number=1,Type=Integer,Description="Number of EAS MALE individuals with hemizygous reference genotypes (biallelic sites only)."> | |
| 222 ##INFO=<ID=EAS_MALE_N_HEMIALT,Number=1,Type=Integer,Description="Number of EAS MALE individuals with hemizygous alternate genotypes (biallelic sites only)."> | |
| 223 ##INFO=<ID=EAS_MALE_FREQ_HEMIREF,Number=1,Type=Float,Description="EAS MALE hemizygous reference genotype frequency (biallelic sites only)."> | |
| 224 ##INFO=<ID=EAS_MALE_FREQ_HEMIALT,Number=1,Type=Float,Description="EAS MALE hemizygous alternate genotype frequency (biallelic sites only)."> | |
| 225 ##INFO=<ID=EAS_FEMALE_AN,Number=1,Type=Integer,Description="Total number of EAS FEMALE alleles genotyped (for biallelic sites) or EAS FEMALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 226 ##INFO=<ID=EAS_FEMALE_AC,Number=A,Type=Integer,Description="Number of non-reference EAS FEMALE alleles observed (for biallelic sites) or EAS FEMALE individuals at each copy state (for multiallelic sites)."> | |
| 227 ##INFO=<ID=EAS_FEMALE_AF,Number=A,Type=Float,Description="EAS FEMALE allele frequency (for biallelic sites) or EAS FEMALE copy-state frequency (for multiallelic sites)."> | |
| 228 ##INFO=<ID=EAS_FEMALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of EAS FEMALE individuals with complete genotypes (biallelic sites only)."> | |
| 229 ##INFO=<ID=EAS_FEMALE_N_HOMREF,Number=1,Type=Integer,Description="Number of EAS FEMALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 230 ##INFO=<ID=EAS_FEMALE_N_HET,Number=1,Type=Integer,Description="Number of EAS FEMALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 231 ##INFO=<ID=EAS_FEMALE_N_HOMALT,Number=1,Type=Integer,Description="Number of EAS FEMALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 232 ##INFO=<ID=EAS_FEMALE_FREQ_HOMREF,Number=1,Type=Float,Description="EAS FEMALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 233 ##INFO=<ID=EAS_FEMALE_FREQ_HET,Number=1,Type=Float,Description="EAS FEMALE heterozygous genotype frequency (biallelic sites only)."> | |
| 234 ##INFO=<ID=EAS_FEMALE_FREQ_HOMALT,Number=1,Type=Float,Description="EAS FEMALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 235 ##INFO=<ID=EUR_AN,Number=1,Type=Integer,Description="Total number of EUR alleles genotyped (for biallelic sites) or EUR individuals with copy-state estimates (for multiallelic sites)."> | |
| 236 ##INFO=<ID=EUR_AC,Number=A,Type=Integer,Description="Number of non-reference EUR alleles observed (for biallelic sites) or EUR individuals at each copy state (for multiallelic sites)."> | |
| 237 ##INFO=<ID=EUR_AF,Number=A,Type=Float,Description="EUR allele frequency (for biallelic sites) or EUR copy-state frequency (for multiallelic sites)."> | |
| 238 ##INFO=<ID=EUR_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of EUR individuals with complete genotypes (biallelic sites only)."> | |
| 239 ##INFO=<ID=EUR_N_HOMREF,Number=1,Type=Integer,Description="Number of EUR individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 240 ##INFO=<ID=EUR_N_HET,Number=1,Type=Integer,Description="Number of EUR individuals with heterozygous genotypes (biallelic sites only)."> | |
| 241 ##INFO=<ID=EUR_N_HOMALT,Number=1,Type=Integer,Description="Number of EUR individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 242 ##INFO=<ID=EUR_FREQ_HOMREF,Number=1,Type=Float,Description="EUR homozygous reference genotype frequency (biallelic sites only)."> | |
| 243 ##INFO=<ID=EUR_FREQ_HET,Number=1,Type=Float,Description="EUR heterozygous genotype frequency (biallelic sites only)."> | |
| 244 ##INFO=<ID=EUR_FREQ_HOMALT,Number=1,Type=Float,Description="EUR homozygous alternate genotype frequency (biallelic sites only)."> | |
| 245 ##INFO=<ID=EUR_MALE_AN,Number=1,Type=Integer,Description="Total number of EUR MALE alleles genotyped (for biallelic sites) or EUR MALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 246 ##INFO=<ID=EUR_MALE_AC,Number=A,Type=Integer,Description="Number of non-reference EUR MALE alleles observed (for biallelic sites) or EUR MALE individuals at each copy state (for multiallelic sites)."> | |
| 247 ##INFO=<ID=EUR_MALE_AF,Number=A,Type=Float,Description="EUR MALE allele frequency (for biallelic sites) or EUR MALE copy-state frequency (for multiallelic sites)."> | |
| 248 ##INFO=<ID=EUR_MALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of EUR MALE individuals with complete genotypes (biallelic sites only)."> | |
| 249 ##INFO=<ID=EUR_MALE_N_HOMREF,Number=1,Type=Integer,Description="Number of EUR MALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 250 ##INFO=<ID=EUR_MALE_N_HET,Number=1,Type=Integer,Description="Number of EUR MALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 251 ##INFO=<ID=EUR_MALE_N_HOMALT,Number=1,Type=Integer,Description="Number of EUR MALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 252 ##INFO=<ID=EUR_MALE_FREQ_HOMREF,Number=1,Type=Float,Description="EUR MALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 253 ##INFO=<ID=EUR_MALE_FREQ_HET,Number=1,Type=Float,Description="EUR MALE heterozygous genotype frequency (biallelic sites only)."> | |
| 254 ##INFO=<ID=EUR_MALE_FREQ_HOMALT,Number=1,Type=Float,Description="EUR MALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 255 ##INFO=<ID=EUR_MALE_N_HEMIREF,Number=1,Type=Integer,Description="Number of EUR MALE individuals with hemizygous reference genotypes (biallelic sites only)."> | |
| 256 ##INFO=<ID=EUR_MALE_N_HEMIALT,Number=1,Type=Integer,Description="Number of EUR MALE individuals with hemizygous alternate genotypes (biallelic sites only)."> | |
| 257 ##INFO=<ID=EUR_MALE_FREQ_HEMIREF,Number=1,Type=Float,Description="EUR MALE hemizygous reference genotype frequency (biallelic sites only)."> | |
| 258 ##INFO=<ID=EUR_MALE_FREQ_HEMIALT,Number=1,Type=Float,Description="EUR MALE hemizygous alternate genotype frequency (biallelic sites only)."> | |
| 259 ##INFO=<ID=EUR_FEMALE_AN,Number=1,Type=Integer,Description="Total number of EUR FEMALE alleles genotyped (for biallelic sites) or EUR FEMALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 260 ##INFO=<ID=EUR_FEMALE_AC,Number=A,Type=Integer,Description="Number of non-reference EUR FEMALE alleles observed (for biallelic sites) or EUR FEMALE individuals at each copy state (for multiallelic sites)."> | |
| 261 ##INFO=<ID=EUR_FEMALE_AF,Number=A,Type=Float,Description="EUR FEMALE allele frequency (for biallelic sites) or EUR FEMALE copy-state frequency (for multiallelic sites)."> | |
| 262 ##INFO=<ID=EUR_FEMALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of EUR FEMALE individuals with complete genotypes (biallelic sites only)."> | |
| 263 ##INFO=<ID=EUR_FEMALE_N_HOMREF,Number=1,Type=Integer,Description="Number of EUR FEMALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 264 ##INFO=<ID=EUR_FEMALE_N_HET,Number=1,Type=Integer,Description="Number of EUR FEMALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 265 ##INFO=<ID=EUR_FEMALE_N_HOMALT,Number=1,Type=Integer,Description="Number of EUR FEMALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 266 ##INFO=<ID=EUR_FEMALE_FREQ_HOMREF,Number=1,Type=Float,Description="EUR FEMALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 267 ##INFO=<ID=EUR_FEMALE_FREQ_HET,Number=1,Type=Float,Description="EUR FEMALE heterozygous genotype frequency (biallelic sites only)."> | |
| 268 ##INFO=<ID=EUR_FEMALE_FREQ_HOMALT,Number=1,Type=Float,Description="EUR FEMALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 269 ##INFO=<ID=OTH_AN,Number=1,Type=Integer,Description="Total number of OTH alleles genotyped (for biallelic sites) or OTH individuals with copy-state estimates (for multiallelic sites)."> | |
| 270 ##INFO=<ID=OTH_AC,Number=A,Type=Integer,Description="Number of non-reference OTH alleles observed (for biallelic sites) or OTH individuals at each copy state (for multiallelic sites)."> | |
| 271 ##INFO=<ID=OTH_AF,Number=A,Type=Float,Description="OTH allele frequency (for biallelic sites) or OTH copy-state frequency (for multiallelic sites)."> | |
| 272 ##INFO=<ID=OTH_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of OTH individuals with complete genotypes (biallelic sites only)."> | |
| 273 ##INFO=<ID=OTH_N_HOMREF,Number=1,Type=Integer,Description="Number of OTH individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 274 ##INFO=<ID=OTH_N_HET,Number=1,Type=Integer,Description="Number of OTH individuals with heterozygous genotypes (biallelic sites only)."> | |
| 275 ##INFO=<ID=OTH_N_HOMALT,Number=1,Type=Integer,Description="Number of OTH individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 276 ##INFO=<ID=OTH_FREQ_HOMREF,Number=1,Type=Float,Description="OTH homozygous reference genotype frequency (biallelic sites only)."> | |
| 277 ##INFO=<ID=OTH_FREQ_HET,Number=1,Type=Float,Description="OTH heterozygous genotype frequency (biallelic sites only)."> | |
| 278 ##INFO=<ID=OTH_FREQ_HOMALT,Number=1,Type=Float,Description="OTH homozygous alternate genotype frequency (biallelic sites only)."> | |
| 279 ##INFO=<ID=OTH_MALE_AN,Number=1,Type=Integer,Description="Total number of OTH MALE alleles genotyped (for biallelic sites) or OTH MALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 280 ##INFO=<ID=OTH_MALE_AC,Number=A,Type=Integer,Description="Number of non-reference OTH MALE alleles observed (for biallelic sites) or OTH MALE individuals at each copy state (for multiallelic sites)."> | |
| 281 ##INFO=<ID=OTH_MALE_AF,Number=A,Type=Float,Description="OTH MALE allele frequency (for biallelic sites) or OTH MALE copy-state frequency (for multiallelic sites)."> | |
| 282 ##INFO=<ID=OTH_MALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of OTH MALE individuals with complete genotypes (biallelic sites only)."> | |
| 283 ##INFO=<ID=OTH_MALE_N_HOMREF,Number=1,Type=Integer,Description="Number of OTH MALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 284 ##INFO=<ID=OTH_MALE_N_HET,Number=1,Type=Integer,Description="Number of OTH MALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 285 ##INFO=<ID=OTH_MALE_N_HOMALT,Number=1,Type=Integer,Description="Number of OTH MALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 286 ##INFO=<ID=OTH_MALE_FREQ_HOMREF,Number=1,Type=Float,Description="OTH MALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 287 ##INFO=<ID=OTH_MALE_FREQ_HET,Number=1,Type=Float,Description="OTH MALE heterozygous genotype frequency (biallelic sites only)."> | |
| 288 ##INFO=<ID=OTH_MALE_FREQ_HOMALT,Number=1,Type=Float,Description="OTH MALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 289 ##INFO=<ID=OTH_MALE_N_HEMIREF,Number=1,Type=Integer,Description="Number of OTH MALE individuals with hemizygous reference genotypes (biallelic sites only)."> | |
| 290 ##INFO=<ID=OTH_MALE_N_HEMIALT,Number=1,Type=Integer,Description="Number of OTH MALE individuals with hemizygous alternate genotypes (biallelic sites only)."> | |
| 291 ##INFO=<ID=OTH_MALE_FREQ_HEMIREF,Number=1,Type=Float,Description="OTH MALE hemizygous reference genotype frequency (biallelic sites only)."> | |
| 292 ##INFO=<ID=OTH_MALE_FREQ_HEMIALT,Number=1,Type=Float,Description="OTH MALE hemizygous alternate genotype frequency (biallelic sites only)."> | |
| 293 ##INFO=<ID=OTH_FEMALE_AN,Number=1,Type=Integer,Description="Total number of OTH FEMALE alleles genotyped (for biallelic sites) or OTH FEMALE individuals with copy-state estimates (for multiallelic sites)."> | |
| 294 ##INFO=<ID=OTH_FEMALE_AC,Number=A,Type=Integer,Description="Number of non-reference OTH FEMALE alleles observed (for biallelic sites) or OTH FEMALE individuals at each copy state (for multiallelic sites)."> | |
| 295 ##INFO=<ID=OTH_FEMALE_AF,Number=A,Type=Float,Description="OTH FEMALE allele frequency (for biallelic sites) or OTH FEMALE copy-state frequency (for multiallelic sites)."> | |
| 296 ##INFO=<ID=OTH_FEMALE_N_BI_GENOS,Number=1,Type=Integer,Description="Total number of OTH FEMALE individuals with complete genotypes (biallelic sites only)."> | |
| 297 ##INFO=<ID=OTH_FEMALE_N_HOMREF,Number=1,Type=Integer,Description="Number of OTH FEMALE individuals with homozygous reference genotypes (biallelic sites only)."> | |
| 298 ##INFO=<ID=OTH_FEMALE_N_HET,Number=1,Type=Integer,Description="Number of OTH FEMALE individuals with heterozygous genotypes (biallelic sites only)."> | |
| 299 ##INFO=<ID=OTH_FEMALE_N_HOMALT,Number=1,Type=Integer,Description="Number of OTH FEMALE individuals with homozygous alternate genotypes (biallelic sites only)."> | |
| 300 ##INFO=<ID=OTH_FEMALE_FREQ_HOMREF,Number=1,Type=Float,Description="OTH FEMALE homozygous reference genotype frequency (biallelic sites only)."> | |
| 301 ##INFO=<ID=OTH_FEMALE_FREQ_HET,Number=1,Type=Float,Description="OTH FEMALE heterozygous genotype frequency (biallelic sites only)."> | |
| 302 ##INFO=<ID=OTH_FEMALE_FREQ_HOMALT,Number=1,Type=Float,Description="OTH FEMALE homozygous alternate genotype frequency (biallelic sites only)."> | |
| 303 #CHROM POS ID REF ALT QUAL FILTER INFO | |
| 304 1 10642 gnomAD-SV_v2.1_BND_1_1 N <BND> 261 UNRESOLVED END=10643;SVTYPE=BND;SVLEN=-1;CHR2=15;POS2=10642;END2=10643;ALGORITHMS=manta;EVIDENCE=PE,SR;PESR_GT_OVERDISPERSION;UNRESOLVED_TYPE=SINGLE_ENDER_--;AN=21366;AC=145;AF=0.006786;N_BI_GENOS=10683;N_HOMREF=10543;N_HET=135;N_HOMALT=5;FREQ_HOMREF=0.986895;FREQ_HET=0.0126369;FREQ_HOMALT=0.000468033;MALE_AN=10866;MALE_AC=69;MALE_AF=0.00635;MALE_N_BI_GENOS=5433;MALE_N_HOMREF=5366;MALE_N_HET=65;MALE_N_HOMALT=2;MALE_FREQ_HOMREF=0.987668;MALE_FREQ_HET=0.0119639;MALE_FREQ_HOMALT=0.000368121;FEMALE_AN=10454;FEMALE_AC=76;FEMALE_AF=0.00727;FEMALE_N_BI_GENOS=5227;FEMALE_N_HOMREF=5154;FEMALE_N_HET=70;FEMALE_N_HOMALT=3;FEMALE_FREQ_HOMREF=0.986034;FEMALE_FREQ_HET=0.013392;FEMALE_FREQ_HOMALT=0.000573943;AFR_AN=9398;AFR_AC=72;AFR_AF=0.007661;AFR_N_BI_GENOS=4699;AFR_N_HOMREF=4629;AFR_N_HET=68;AFR_N_HOMALT=2;AFR_FREQ_HOMREF=0.985103;AFR_FREQ_HET=0.0144712;AFR_FREQ_HOMALT=0.000425622;AFR_MALE_AN=5154;AFR_MALE_AC=33;AFR_MALE_AF=0.006403;AFR_MALE_N_BI_GENOS=2577;AFR_MALE_N_HOMREF=2544;AFR_MALE_N_HET=33;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.987194;AFR_MALE_FREQ_HET=0.0128056;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4232;AFR_FEMALE_AC=39;AFR_FEMALE_AF=0.009216;AFR_FEMALE_N_BI_GENOS=2116;AFR_FEMALE_N_HOMREF=2079;AFR_FEMALE_N_HET=35;AFR_FEMALE_N_HOMALT=2;AFR_FEMALE_FREQ_HOMREF=0.982514;AFR_FEMALE_FREQ_HET=0.0165406;AFR_FEMALE_FREQ_HOMALT=0.00094518;AMR_AN=1910;AMR_AC=7;AMR_AF=0.003665;AMR_N_BI_GENOS=955;AMR_N_HOMREF=949;AMR_N_HET=5;AMR_N_HOMALT=1;AMR_FREQ_HOMREF=0.993717;AMR_FREQ_HET=0.0052356;AMR_FREQ_HOMALT=0.00104712;AMR_MALE_AN=950;AMR_MALE_AC=4;AMR_MALE_AF=0.004211;AMR_MALE_N_BI_GENOS=475;AMR_MALE_N_HOMREF=472;AMR_MALE_N_HET=2;AMR_MALE_N_HOMALT=1;AMR_MALE_FREQ_HOMREF=0.993684;AMR_MALE_FREQ_HET=0.00421053;AMR_MALE_FREQ_HOMALT=0.00210526;AMR_FEMALE_AN=952;AMR_FEMALE_AC=3;AMR_FEMALE_AF=0.003151;AMR_FEMALE_N_BI_GENOS=476;AMR_FEMALE_N_HOMREF=473;AMR_FEMALE_N_HET=3;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.993697;AMR_FEMALE_FREQ_HET=0.00630252;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2296;EAS_AC=31;EAS_AF=0.013502;EAS_N_BI_GENOS=1148;EAS_N_HOMREF=1117;EAS_N_HET=31;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.972997;EAS_FREQ_HET=0.0270035;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1312;EAS_MALE_AC=13;EAS_MALE_AF=0.009909;EAS_MALE_N_BI_GENOS=656;EAS_MALE_N_HOMREF=643;EAS_MALE_N_HET=13;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.980183;EAS_MALE_FREQ_HET=0.0198171;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=976;EAS_FEMALE_AC=18;EAS_FEMALE_AF=0.018443;EAS_FEMALE_N_BI_GENOS=488;EAS_FEMALE_N_HOMREF=470;EAS_FEMALE_N_HET=18;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.963115;EAS_FEMALE_FREQ_HET=0.0368852;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7574;EUR_AC=32;EUR_AF=0.004225;EUR_N_BI_GENOS=3787;EUR_N_HOMREF=3757;EUR_N_HET=28;EUR_N_HOMALT=2;EUR_FREQ_HOMREF=0.992078;EUR_FREQ_HET=0.00739372;EUR_FREQ_HOMALT=0.000528123;EUR_MALE_AN=3374;EUR_MALE_AC=17;EUR_MALE_AF=0.005039;EUR_MALE_N_BI_GENOS=1687;EUR_MALE_N_HOMREF=1671;EUR_MALE_N_HET=15;EUR_MALE_N_HOMALT=1;EUR_MALE_FREQ_HOMREF=0.990516;EUR_MALE_FREQ_HET=0.00889152;EUR_MALE_FREQ_HOMALT=0.000592768;EUR_FEMALE_AN=4182;EUR_FEMALE_AC=15;EUR_FEMALE_AF=0.003587;EUR_FEMALE_N_BI_GENOS=2091;EUR_FEMALE_N_HOMREF=2077;EUR_FEMALE_N_HET=13;EUR_FEMALE_N_HOMALT=1;EUR_FEMALE_FREQ_HOMREF=0.993305;EUR_FEMALE_FREQ_HET=0.00621712;EUR_FEMALE_FREQ_HOMALT=0.00047824;OTH_AN=188;OTH_AC=3;OTH_AF=0.015957;OTH_N_BI_GENOS=94;OTH_N_HOMREF=91;OTH_N_HET=3;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.968085;OTH_FREQ_HET=0.0319149;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=2;OTH_MALE_AF=0.026316;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=36;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.947368;OTH_MALE_FREQ_HET=0.0526316;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=112;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.008929;OTH_FEMALE_N_BI_GENOS=56;OTH_FEMALE_N_HOMREF=55;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.982143;OTH_FEMALE_FREQ_HET=0.0178571;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.015957 | |
| 305 1 21000 gnomAD-SV_v2.1_DEL_1_1 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=26000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=8586;AC=138;AF=0.016073;N_BI_GENOS=4293;N_HOMREF=4155;N_HET=138;N_HOMALT=0;FREQ_HOMREF=0.967855;FREQ_HET=0.0321454;FREQ_HOMALT=0;MALE_AN=4302;MALE_AC=69;MALE_AF=0.016039;MALE_N_BI_GENOS=2151;MALE_N_HOMREF=2082;MALE_N_HET=69;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.967922;MALE_FREQ_HET=0.0320781;MALE_FREQ_HOMALT=0;FEMALE_AN=4272;FEMALE_AC=68;FEMALE_AF=0.015918;FEMALE_N_BI_GENOS=2136;FEMALE_N_HOMREF=2068;FEMALE_N_HET=68;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.968165;FEMALE_FREQ_HET=0.0318352;FEMALE_FREQ_HOMALT=0;AFR_AN=3718;AFR_AC=27;AFR_AF=0.007262;AFR_N_BI_GENOS=1859;AFR_N_HOMREF=1832;AFR_N_HET=27;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.985476;AFR_FREQ_HET=0.0145239;AFR_FREQ_HOMALT=0;AFR_MALE_AN=2016;AFR_MALE_AC=16;AFR_MALE_AF=0.007937;AFR_MALE_N_BI_GENOS=1008;AFR_MALE_N_HOMREF=992;AFR_MALE_N_HET=16;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.984127;AFR_MALE_FREQ_HET=0.015873;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=1702;AFR_FEMALE_AC=11;AFR_FEMALE_AF=0.006463;AFR_FEMALE_N_BI_GENOS=851;AFR_FEMALE_N_HOMREF=840;AFR_FEMALE_N_HET=11;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.987074;AFR_FEMALE_FREQ_HET=0.012926;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=684;AMR_AC=8;AMR_AF=0.011696;AMR_N_BI_GENOS=342;AMR_N_HOMREF=334;AMR_N_HET=8;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.976608;AMR_FREQ_HET=0.0233918;AMR_FREQ_HOMALT=0;AMR_MALE_AN=326;AMR_MALE_AC=2;AMR_MALE_AF=0.006135;AMR_MALE_N_BI_GENOS=163;AMR_MALE_N_HOMREF=161;AMR_MALE_N_HET=2;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.98773;AMR_MALE_FREQ_HET=0.0122699;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=358;AMR_FEMALE_AC=6;AMR_FEMALE_AF=0.01676;AMR_FEMALE_N_BI_GENOS=179;AMR_FEMALE_N_HOMREF=173;AMR_FEMALE_N_HET=6;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.96648;AMR_FEMALE_FREQ_HET=0.0335196;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=750;EAS_AC=54;EAS_AF=0.072;EAS_N_BI_GENOS=375;EAS_N_HOMREF=321;EAS_N_HET=54;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.856;EAS_FREQ_HET=0.144;EAS_FREQ_HOMALT=0;EAS_MALE_AN=418;EAS_MALE_AC=28;EAS_MALE_AF=0.066986;EAS_MALE_N_BI_GENOS=209;EAS_MALE_N_HOMREF=181;EAS_MALE_N_HET=28;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.866029;EAS_MALE_FREQ_HET=0.133971;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=328;EAS_FEMALE_AC=25;EAS_FEMALE_AF=0.07622;EAS_FEMALE_N_BI_GENOS=164;EAS_FEMALE_N_HOMREF=139;EAS_FEMALE_N_HET=25;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.847561;EAS_FEMALE_FREQ_HET=0.152439;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=3346;EUR_AC=48;EUR_AF=0.014345;EUR_N_BI_GENOS=1673;EUR_N_HOMREF=1625;EUR_N_HET=48;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.971309;EUR_FREQ_HET=0.028691;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1498;EUR_MALE_AC=22;EUR_MALE_AF=0.014686;EUR_MALE_N_BI_GENOS=749;EUR_MALE_N_HOMREF=727;EUR_MALE_N_HET=22;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.970627;EUR_MALE_FREQ_HET=0.0293725;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=1840;EUR_FEMALE_AC=26;EUR_FEMALE_AF=0.01413;EUR_FEMALE_N_BI_GENOS=920;EUR_FEMALE_N_HOMREF=894;EUR_FEMALE_N_HET=26;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.971739;EUR_FEMALE_FREQ_HET=0.0282609;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=88;OTH_AC=1;OTH_AF=0.011364;OTH_N_BI_GENOS=44;OTH_N_HOMREF=43;OTH_N_HET=1;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.977273;OTH_FREQ_HET=0.0227273;OTH_FREQ_HOMALT=0;OTH_MALE_AN=44;OTH_MALE_AC=1;OTH_MALE_AF=0.022727;OTH_MALE_N_BI_GENOS=22;OTH_MALE_N_HOMREF=21;OTH_MALE_N_HET=1;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.954545;OTH_MALE_FREQ_HET=0.0454545;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=44;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=22;OTH_FEMALE_N_HOMREF=22;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.072 | |
| 306 1 40000 gnomAD-SV_v2.1_DUP_1_1 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=47200;SVTYPE=DUP;SVLEN=7200;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=13674;AC=943;AF=0.068963;N_BI_GENOS=6837;N_HOMREF=5985;N_HET=761;N_HOMALT=91;FREQ_HOMREF=0.875384;FREQ_HET=0.111306;FREQ_HOMALT=0.0133099;MALE_AN=6878;MALE_AC=499;MALE_AF=0.07255;MALE_N_BI_GENOS=3439;MALE_N_HOMREF=2987;MALE_N_HET=405;MALE_N_HOMALT=47;MALE_FREQ_HOMREF=0.868566;MALE_FREQ_HET=0.117767;MALE_FREQ_HOMALT=0.0136668;FEMALE_AN=6770;FEMALE_AC=442;FEMALE_AF=0.065288;FEMALE_N_BI_GENOS=3385;FEMALE_N_HOMREF=2987;FEMALE_N_HET=354;FEMALE_N_HOMALT=44;FEMALE_FREQ_HOMREF=0.882422;FEMALE_FREQ_HET=0.104579;FEMALE_FREQ_HOMALT=0.0129985;AFR_AN=6382;AFR_AC=866;AFR_AF=0.135694;AFR_N_BI_GENOS=3191;AFR_N_HOMREF=2415;AFR_N_HET=686;AFR_N_HOMALT=90;AFR_FREQ_HOMREF=0.756816;AFR_FREQ_HET=0.21498;AFR_FREQ_HOMALT=0.0282043;AFR_MALE_AN=3470;AFR_MALE_AC=460;AFR_MALE_AF=0.132565;AFR_MALE_N_BI_GENOS=1735;AFR_MALE_N_HOMREF=1322;AFR_MALE_N_HET=366;AFR_MALE_N_HOMALT=47;AFR_MALE_FREQ_HOMREF=0.76196;AFR_MALE_FREQ_HET=0.210951;AFR_MALE_FREQ_HOMALT=0.0270893;AFR_FEMALE_AN=2904;AFR_FEMALE_AC=404;AFR_FEMALE_AF=0.139118;AFR_FEMALE_N_BI_GENOS=1452;AFR_FEMALE_N_HOMREF=1091;AFR_FEMALE_N_HET=318;AFR_FEMALE_N_HOMALT=43;AFR_FEMALE_FREQ_HOMREF=0.751377;AFR_FEMALE_FREQ_HET=0.219008;AFR_FEMALE_FREQ_HOMALT=0.0296143;AMR_AN=918;AMR_AC=21;AMR_AF=0.022876;AMR_N_BI_GENOS=459;AMR_N_HOMREF=439;AMR_N_HET=19;AMR_N_HOMALT=1;AMR_FREQ_HOMREF=0.956427;AMR_FREQ_HET=0.0413943;AMR_FREQ_HOMALT=0.00217865;AMR_MALE_AN=426;AMR_MALE_AC=12;AMR_MALE_AF=0.028169;AMR_MALE_N_BI_GENOS=213;AMR_MALE_N_HOMREF=201;AMR_MALE_N_HET=12;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.943662;AMR_MALE_FREQ_HET=0.056338;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=490;AMR_FEMALE_AC=9;AMR_FEMALE_AF=0.018367;AMR_FEMALE_N_BI_GENOS=245;AMR_FEMALE_N_HOMREF=237;AMR_FEMALE_N_HET=7;AMR_FEMALE_N_HOMALT=1;AMR_FEMALE_FREQ_HOMREF=0.967347;AMR_FEMALE_FREQ_HET=0.0285714;AMR_FEMALE_FREQ_HOMALT=0.00408163;EAS_AN=1544;EAS_AC=17;EAS_AF=0.01101;EAS_N_BI_GENOS=772;EAS_N_HOMREF=755;EAS_N_HET=17;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.977979;EAS_FREQ_HET=0.0220207;EAS_FREQ_HOMALT=0;EAS_MALE_AN=902;EAS_MALE_AC=11;EAS_MALE_AF=0.012195;EAS_MALE_N_BI_GENOS=451;EAS_MALE_N_HOMREF=440;EAS_MALE_N_HET=11;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.97561;EAS_MALE_FREQ_HET=0.0243902;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=638;EAS_FEMALE_AC=6;EAS_FEMALE_AF=0.009404;EAS_FEMALE_N_BI_GENOS=319;EAS_FEMALE_N_HOMREF=313;EAS_FEMALE_N_HET=6;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.981191;EAS_FEMALE_FREQ_HET=0.0188088;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4716;EUR_AC=37;EUR_AF=0.007846;EUR_N_BI_GENOS=2358;EUR_N_HOMREF=2321;EUR_N_HET=37;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.984309;EUR_FREQ_HET=0.0156913;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2034;EUR_MALE_AC=15;EUR_MALE_AF=0.007375;EUR_MALE_N_BI_GENOS=1017;EUR_MALE_N_HOMREF=1002;EUR_MALE_N_HET=15;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.985251;EUR_MALE_FREQ_HET=0.0147493;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2670;EUR_FEMALE_AC=22;EUR_FEMALE_AF=0.00824;EUR_FEMALE_N_BI_GENOS=1335;EUR_FEMALE_N_HOMREF=1313;EUR_FEMALE_N_HET=22;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.983521;EUR_FEMALE_FREQ_HET=0.0164794;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=114;OTH_AC=2;OTH_AF=0.017544;OTH_N_BI_GENOS=57;OTH_N_HOMREF=55;OTH_N_HET=2;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.964912;OTH_FREQ_HET=0.0350877;OTH_FREQ_HOMALT=0;OTH_MALE_AN=46;OTH_MALE_AC=1;OTH_MALE_AF=0.021739;OTH_MALE_N_BI_GENOS=23;OTH_MALE_N_HOMREF=22;OTH_MALE_N_HET=1;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.956522;OTH_MALE_FREQ_HET=0.0434783;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=68;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.014706;OTH_FEMALE_N_BI_GENOS=34;OTH_FEMALE_N_HOMREF=33;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.970588;OTH_FEMALE_FREQ_HET=0.0294118;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.135694 | |
| 307 1 46000 gnomAD-SV_v2.1_MCNV_1_1 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7>,<CN=8> 999 MULTIALLELIC END=111250;SVTYPE=MCNV;SVLEN=65250;ALGORITHMS=depth;EVIDENCE=BAF,RD;PCRPLUS_DEPLETED;PROTEIN_CODING__MSV_EXON_OVR=OR4F5;AN=10307;AC=977,2784,3605,1829,862,206,39,4,1;AF=0.09479,0.270108,0.349762,0.177452,0.083632,0.019986,0.003784,0.000388,9.7e-05;MALE_AN=5222;MALE_AC=440,1335,1841,987,478,115,25,0,1;MALE_AF=0.084259,0.255649,0.352547,0.189008,0.091536,0.022022,0.004787,0,0.000191;FEMALE_AN=5066;FEMALE_AC=535,1443,1758,839,382,91,14,4,0;FEMALE_AF=0.105606,0.28484,0.347019,0.165614,0.075405,0.017963,0.002764,0.00079,0;AFR_AN=4543;AFR_AC=161,867,1655,1033,599,185,38,4,1;AFR_AF=0.035439,0.190843,0.364297,0.227383,0.131851,0.040722,0.008365,0.00088,0.00022;AFR_MALE_AN=2480;AFR_MALE_AC=95,464,903,560,331,102,24,0,1;AFR_MALE_AF=0.038306,0.187097,0.364113,0.225806,0.133468,0.041129,0.009677,0,0.000403;AFR_FEMALE_AN=2059;AFR_FEMALE_AC=66,403,750,472,267,83,14,4,0;AFR_FEMALE_AF=0.032054,0.195726,0.364254,0.229237,0.129675,0.040311,0.006799,0.001943,0;AMR_AN=735;AMR_AC=84,252,276,97,22,4,0,0,0;AMR_AF=0.114286,0.342857,0.37551,0.131973,0.029932,0.005442,0,0,0;AMR_MALE_AN=350;AMR_MALE_AC=30,122,133,54,9,2,0,0,0;AMR_MALE_AF=0.085714,0.348571,0.38,0.154286,0.025714,0.005714,0,0,0;AMR_FEMALE_AN=383;AMR_FEMALE_AC=54,129,143,42,13,2,0,0,0;AMR_FEMALE_AF=0.140992,0.336815,0.373368,0.109661,0.033943,0.005222,0,0,0;EAS_AN=1208;EAS_AC=5,80,401,484,221,16,1,0,0;EAS_AF=0.004139,0.066225,0.331954,0.400662,0.182947,0.013245,0.000828,0,0;EAS_MALE_AN=694;EAS_MALE_AC=4,47,231,273,127,11,1,0,0;EAS_MALE_AF=0.005764,0.067723,0.332853,0.393372,0.182997,0.01585,0.001441,0,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=1,33,168,210,93,5,0,0,0;EAS_FEMALE_AF=0.001961,0.064706,0.329412,0.411765,0.182353,0.009804,0,0,0;EUR_AN=3726;EUR_AC=716,1556,1239,197,17,1,0,0,0;EUR_AF=0.192163,0.417606,0.332528,0.052872,0.004563,0.000268,0,0,0;EUR_MALE_AN=1660;EUR_MALE_AC=305,693,563,90,9,0,0,0,0;EUR_MALE_AF=0.183735,0.41747,0.339157,0.054217,0.005422,0,0,0,0;EUR_FEMALE_AN=2057;EUR_FEMALE_AC=409,858,674,107,8,1,0,0,0;EUR_FEMALE_AF=0.198833,0.417112,0.327662,0.052018,0.003889,0.000486,0,0,0;OTH_AN=95;OTH_AC=11,29,34,18,3,0,0,0,0;OTH_AF=0.115789,0.305263,0.357895,0.189474,0.031579,0,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=6,9,11,10,2,0,0,0,0;OTH_MALE_AF=0.157895,0.236842,0.289474,0.263158,0.052632,0,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=5,20,23,8,1,0,0,0,0;OTH_FEMALE_AF=0.087719,0.350877,0.403509,0.140351,0.017544,0,0,0,0 | |
| 308 1 50941 gnomAD-SV_v2.1_DEL_1_2 N <DEL> 220 UNSTABLE_AF_PCRMINUS END=51053;SVTYPE=DEL;SVLEN=112;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=19990;AC=81;AF=0.004052;N_BI_GENOS=9995;N_HOMREF=9914;N_HET=81;N_HOMALT=0;FREQ_HOMREF=0.991896;FREQ_HET=0.00810405;FREQ_HOMALT=0;MALE_AN=10134;MALE_AC=30;MALE_AF=0.00296;MALE_N_BI_GENOS=5067;MALE_N_HOMREF=5037;MALE_N_HET=30;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.994079;MALE_FREQ_HET=0.00592066;MALE_FREQ_HOMALT=0;FEMALE_AN=9818;FEMALE_AC=51;FEMALE_AF=0.005195;FEMALE_N_BI_GENOS=4909;FEMALE_N_HOMREF=4858;FEMALE_N_HET=51;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.989611;FEMALE_FREQ_HET=0.0103891;FEMALE_FREQ_HOMALT=0;AFR_AN=8974;AFR_AC=19;AFR_AF=0.002117;AFR_N_BI_GENOS=4487;AFR_N_HOMREF=4468;AFR_N_HET=19;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.995766;AFR_FREQ_HET=0.00423446;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4894;AFR_MALE_AC=7;AFR_MALE_AF=0.00143;AFR_MALE_N_BI_GENOS=2447;AFR_MALE_N_HOMREF=2440;AFR_MALE_N_HET=7;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.997139;AFR_MALE_FREQ_HET=0.00286065;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4072;AFR_FEMALE_AC=12;AFR_FEMALE_AF=0.002947;AFR_FEMALE_N_BI_GENOS=2036;AFR_FEMALE_N_HOMREF=2024;AFR_FEMALE_N_HET=12;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.994106;AFR_FEMALE_FREQ_HET=0.00589391;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1452;AMR_AC=3;AMR_AF=0.002066;AMR_N_BI_GENOS=726;AMR_N_HOMREF=723;AMR_N_HET=3;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.995868;AMR_FREQ_HET=0.00413223;AMR_FREQ_HOMALT=0;AMR_MALE_AN=688;AMR_MALE_AC=1;AMR_MALE_AF=0.001453;AMR_MALE_N_BI_GENOS=344;AMR_MALE_N_HOMREF=343;AMR_MALE_N_HET=1;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.997093;AMR_MALE_FREQ_HET=0.00290698;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=760;AMR_FEMALE_AC=2;AMR_FEMALE_AF=0.002632;AMR_FEMALE_N_BI_GENOS=380;AMR_FEMALE_N_HOMREF=378;AMR_FEMALE_N_HET=2;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.994737;AMR_FEMALE_FREQ_HET=0.00526316;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6964;EUR_AC=59;EUR_AF=0.008472;EUR_N_BI_GENOS=3482;EUR_N_HOMREF=3423;EUR_N_HET=59;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.983056;EUR_FREQ_HET=0.0169443;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3092;EUR_MALE_AC=22;EUR_MALE_AF=0.007115;EUR_MALE_N_BI_GENOS=1546;EUR_MALE_N_HOMREF=1524;EUR_MALE_N_HET=22;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.98577;EUR_MALE_FREQ_HET=0.0142303;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3854;EUR_FEMALE_AC=37;EUR_FEMALE_AF=0.0096;EUR_FEMALE_N_BI_GENOS=1927;EUR_FEMALE_N_HOMREF=1890;EUR_FEMALE_N_HET=37;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.980799;EUR_FEMALE_FREQ_HET=0.0192008;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=184;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=92;OTH_N_HOMREF=92;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=72;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=36;OTH_MALE_N_HOMREF=36;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=112;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=56;OTH_FEMALE_N_HOMREF=56;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.008472 | |
| 309 1 54665 gnomAD-SV_v2.1_INS_1_1 N <INS> 248 PASS END=54666;SVTYPE=INS;SVLEN=52;CHR2=1;POS2=54716;END2=54717;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=21306;AC=2;AF=9.4e-05;N_BI_GENOS=10653;N_HOMREF=10651;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999812;FREQ_HET=0.000187741;FREQ_HOMALT=0;MALE_AN=10870;MALE_AC=1;MALE_AF=9.2e-05;MALE_N_BI_GENOS=5435;MALE_N_HOMREF=5434;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999816;MALE_FREQ_HET=0.000183993;MALE_FREQ_HOMALT=0;FEMALE_AN=10390;FEMALE_AC=1;FEMALE_AF=9.6e-05;FEMALE_N_BI_GENOS=5195;FEMALE_N_HOMREF=5194;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999808;FEMALE_FREQ_HET=0.000192493;FEMALE_FREQ_HOMALT=0;AFR_AN=9380;AFR_AC=1;AFR_AF=0.000107;AFR_N_BI_GENOS=4690;AFR_N_HOMREF=4689;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999787;AFR_FREQ_HET=0.00021322;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5148;AFR_MALE_AC=1;AFR_MALE_AF=0.000194;AFR_MALE_N_BI_GENOS=2574;AFR_MALE_N_HOMREF=2573;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999611;AFR_MALE_FREQ_HET=0.0003885;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4220;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2110;AFR_FEMALE_N_HOMREF=2110;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1908;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=954;AMR_N_HOMREF=954;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=952;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=476;AMR_MALE_N_HOMREF=476;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=948;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=474;AMR_FEMALE_N_HOMREF=474;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2366;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1183;EAS_N_HOMREF=1183;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1366;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=683;EAS_MALE_N_HOMREF=683;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=992;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=496;EAS_FEMALE_N_HOMREF=496;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7462;EUR_AC=1;EUR_AF=0.000134;EUR_N_BI_GENOS=3731;EUR_N_HOMREF=3730;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999732;EUR_FREQ_HET=0.000268025;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3328;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1664;EUR_MALE_N_HOMREF=1664;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4116;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000243;EUR_FEMALE_N_BI_GENOS=2058;EUR_FEMALE_N_HOMREF=2057;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999514;EUR_FEMALE_FREQ_HET=0.000485909;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000134 | |
| 310 1 54720 gnomAD-SV_v2.1_INS_1_2 N <INS> 711 UNSTABLE_AF_PCRMINUS END=54721;SVTYPE=INS;SVLEN=54;CHR2=1;POS2=54767;END2=54768;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=19320;AC=2;AF=0.000104;N_BI_GENOS=9660;N_HOMREF=9658;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999793;FREQ_HET=0.000207039;FREQ_HOMALT=0;MALE_AN=9804;MALE_AC=1;MALE_AF=0.000102;MALE_N_BI_GENOS=4902;MALE_N_HOMREF=4901;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999796;MALE_FREQ_HET=0.000203998;MALE_FREQ_HOMALT=0;FEMALE_AN=9480;FEMALE_AC=1;FEMALE_AF=0.000105;FEMALE_N_BI_GENOS=4740;FEMALE_N_HOMREF=4739;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999789;FEMALE_FREQ_HET=0.00021097;FEMALE_FREQ_HOMALT=0;AFR_AN=8672;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4336;AFR_N_HOMREF=4336;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4728;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2364;AFR_MALE_N_HOMREF=2364;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3938;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=1969;AFR_FEMALE_N_HOMREF=1969;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1390;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=695;AMR_N_HOMREF=695;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=670;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=335;AMR_MALE_N_HOMREF=335;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=716;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=358;AMR_FEMALE_N_HOMREF=358;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2340;EAS_AC=1;EAS_AF=0.000427;EAS_N_BI_GENOS=1170;EAS_N_HOMREF=1169;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999145;EAS_FREQ_HET=0.000854701;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1332;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=666;EAS_MALE_N_HOMREF=666;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1000;EAS_FEMALE_AC=1;EAS_FEMALE_AF=0.001;EAS_FEMALE_N_BI_GENOS=500;EAS_FEMALE_N_HOMREF=499;EAS_FEMALE_N_HET=1;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.998;EAS_FEMALE_FREQ_HET=0.002;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6734;EUR_AC=1;EUR_AF=0.000149;EUR_N_BI_GENOS=3367;EUR_N_HOMREF=3366;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999703;EUR_FREQ_HET=0.000297;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3000;EUR_MALE_AC=1;EUR_MALE_AF=0.000333;EUR_MALE_N_BI_GENOS=1500;EUR_MALE_N_HOMREF=1499;EUR_MALE_N_HET=1;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.999333;EUR_MALE_FREQ_HET=0.000666667;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3716;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1858;EUR_FEMALE_N_HOMREF=1858;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=184;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=92;OTH_N_HOMREF=92;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=74;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=37;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=110;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=55;OTH_FEMALE_N_HOMREF=55;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000427 | |
| 311 1 62399 gnomAD-SV_v2.1_DEL_1_3 N <DEL> 539 PASS END=62489;SVTYPE=DEL;SVLEN=90;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=21694;AC=2;AF=9.2e-05;N_BI_GENOS=10847;N_HOMREF=10845;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999816;FREQ_HET=0.000184383;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5527;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.000180897;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=1;FEMALE_AF=9.4e-05;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5295;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999811;FEMALE_FREQ_HET=0.000188822;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=2;EAS_AF=0.000828;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1206;EAS_N_HET=2;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.998344;EAS_FREQ_HET=0.00165563;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=1;EAS_MALE_AF=0.00072;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=693;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.998559;EAS_MALE_FREQ_HET=0.00144092;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=1;EAS_FEMALE_AF=0.00098;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=509;EAS_FEMALE_N_HET=1;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.998039;EAS_FEMALE_FREQ_HET=0.00196078;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000828 | |
| 312 1 66350 gnomAD-SV_v2.1_DEL_1_4 N <DEL> 1 PASS END=66427;SVTYPE=DEL;SVLEN=77;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=21620;AC=12;AF=0.000555;N_BI_GENOS=10810;N_HOMREF=10798;N_HET=12;N_HOMALT=0;FREQ_HOMREF=0.99889;FREQ_HET=0.00111008;FREQ_HOMALT=0;MALE_AN=11026;MALE_AC=5;MALE_AF=0.000453;MALE_N_BI_GENOS=5513;MALE_N_HOMREF=5508;MALE_N_HET=5;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999093;MALE_FREQ_HET=0.000906947;MALE_FREQ_HOMALT=0;FEMALE_AN=10548;FEMALE_AC=7;FEMALE_AF=0.000664;FEMALE_N_BI_GENOS=5274;FEMALE_N_HOMREF=5267;FEMALE_N_HET=7;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.998673;FEMALE_FREQ_HET=0.00132727;FEMALE_FREQ_HOMALT=0;AFR_AN=9500;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4750;AFR_N_HOMREF=4750;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5216;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2608;AFR_MALE_N_HOMREF=2608;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4272;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2136;AFR_FEMALE_N_HOMREF=2136;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1922;AMR_AC=3;AMR_AF=0.001561;AMR_N_BI_GENOS=961;AMR_N_HOMREF=958;AMR_N_HET=3;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.996878;AMR_FREQ_HET=0.00312175;AMR_FREQ_HOMALT=0;AMR_MALE_AN=954;AMR_MALE_AC=2;AMR_MALE_AF=0.002096;AMR_MALE_N_BI_GENOS=477;AMR_MALE_N_HOMREF=475;AMR_MALE_N_HET=2;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.995807;AMR_MALE_FREQ_HET=0.00419287;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=960;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.001042;AMR_FEMALE_N_BI_GENOS=480;AMR_FEMALE_N_HOMREF=479;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997917;AMR_FEMALE_FREQ_HET=0.00208333;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7594;EUR_AC=8;EUR_AF=0.001053;EUR_N_BI_GENOS=3797;EUR_N_HOMREF=3789;EUR_N_HET=8;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.997893;EUR_FREQ_HET=0.00210693;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3394;EUR_MALE_AC=3;EUR_MALE_AF=0.000884;EUR_MALE_N_BI_GENOS=1697;EUR_MALE_N_HOMREF=1694;EUR_MALE_N_HET=3;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.998232;EUR_MALE_FREQ_HET=0.00176783;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4182;EUR_FEMALE_AC=5;EUR_FEMALE_AF=0.001196;EUR_FEMALE_N_BI_GENOS=2091;EUR_FEMALE_N_HOMREF=2086;EUR_FEMALE_N_HET=5;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.997609;EUR_FEMALE_FREQ_HET=0.0023912;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=188;OTH_AC=1;OTH_AF=0.005319;OTH_N_BI_GENOS=94;OTH_N_HOMREF=93;OTH_N_HET=1;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.989362;OTH_FREQ_HET=0.0106383;OTH_FREQ_HOMALT=0;OTH_MALE_AN=74;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=37;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.008772;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=56;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.982456;OTH_FEMALE_FREQ_HET=0.0175439;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.005319 | |
| 313 1 66531 gnomAD-SV_v2.1_INS_1_3 N <INS> 58 PASS END=66532;SVTYPE=INS;SVLEN=59;CHR2=1;POS2=66576;END2=66577;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=21398;AC=5;AF=0.000234;N_BI_GENOS=10699;N_HOMREF=10694;N_HET=5;N_HOMALT=0;FREQ_HOMREF=0.999533;FREQ_HET=0.000467333;FREQ_HOMALT=0;MALE_AN=10934;MALE_AC=4;MALE_AF=0.000366;MALE_N_BI_GENOS=5467;MALE_N_HOMREF=5463;MALE_N_HET=4;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999268;MALE_FREQ_HET=0.000731663;MALE_FREQ_HOMALT=0;FEMALE_AN=10418;FEMALE_AC=1;FEMALE_AF=9.6e-05;FEMALE_N_BI_GENOS=5209;FEMALE_N_HOMREF=5208;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999808;FEMALE_FREQ_HET=0.000191975;FEMALE_FREQ_HOMALT=0;AFR_AN=9412;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4706;AFR_N_HOMREF=4706;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5178;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2589;AFR_MALE_N_HOMREF=2589;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4222;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2111;AFR_FEMALE_N_HOMREF=2111;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1922;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=961;AMR_N_HOMREF=961;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=958;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=479;AMR_MALE_N_HOMREF=479;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=956;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=478;AMR_FEMALE_N_HOMREF=478;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7460;EUR_AC=5;EUR_AF=0.00067;EUR_N_BI_GENOS=3730;EUR_N_HOMREF=3725;EUR_N_HET=5;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.998659;EUR_FREQ_HET=0.00134048;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3334;EUR_MALE_AC=4;EUR_MALE_AF=0.0012;EUR_MALE_N_BI_GENOS=1667;EUR_MALE_N_HOMREF=1663;EUR_MALE_N_HET=4;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.9976;EUR_MALE_FREQ_HET=0.00239952;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4108;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000243;EUR_FEMALE_N_BI_GENOS=2054;EUR_FEMALE_N_HOMREF=2053;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999513;EUR_FEMALE_FREQ_HET=0.000486855;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=188;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=94;OTH_N_HOMREF=94;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=112;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=56;OTH_FEMALE_N_HOMREF=56;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.00067 | |
| 314 1 66576 gnomAD-SV_v2.1_INS_1_4 N <INS> 58 PASS END=66577;SVTYPE=INS;SVLEN=59;CHR2=1;POS2=66616;END2=66617;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F5;AN=21404;AC=5;AF=0.000234;N_BI_GENOS=10702;N_HOMREF=10697;N_HET=5;N_HOMALT=0;FREQ_HOMREF=0.999533;FREQ_HET=0.000467202;FREQ_HOMALT=0;MALE_AN=10934;MALE_AC=3;MALE_AF=0.000274;MALE_N_BI_GENOS=5467;MALE_N_HOMREF=5464;MALE_N_HET=3;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999451;MALE_FREQ_HET=0.000548747;MALE_FREQ_HOMALT=0;FEMALE_AN=10424;FEMALE_AC=2;FEMALE_AF=0.000192;FEMALE_N_BI_GENOS=5212;FEMALE_N_HOMREF=5210;FEMALE_N_HET=2;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999616;FEMALE_FREQ_HET=0.00038373;FEMALE_FREQ_HOMALT=0;AFR_AN=9466;AFR_AC=2;AFR_AF=0.000211;AFR_N_BI_GENOS=4733;AFR_N_HOMREF=4731;AFR_N_HET=2;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999577;AFR_FREQ_HET=0.000422565;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5196;AFR_MALE_AC=1;AFR_MALE_AF=0.000192;AFR_MALE_N_BI_GENOS=2598;AFR_MALE_N_HOMREF=2597;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999615;AFR_MALE_FREQ_HET=0.000384911;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4258;AFR_FEMALE_AC=1;AFR_FEMALE_AF=0.000235;AFR_FEMALE_N_BI_GENOS=2129;AFR_FEMALE_N_HOMREF=2128;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.99953;AFR_FEMALE_FREQ_HET=0.000469704;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1914;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=957;AMR_N_HOMREF=957;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=956;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=478;AMR_MALE_N_HOMREF=478;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=950;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=475;AMR_FEMALE_N_HOMREF=475;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7418;EUR_AC=3;EUR_AF=0.000404;EUR_N_BI_GENOS=3709;EUR_N_HOMREF=3706;EUR_N_HET=3;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999191;EUR_FREQ_HET=0.000808843;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3318;EUR_MALE_AC=2;EUR_MALE_AF=0.000603;EUR_MALE_N_BI_GENOS=1659;EUR_MALE_N_HOMREF=1657;EUR_MALE_N_HET=2;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.998794;EUR_MALE_FREQ_HET=0.00120555;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4082;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000245;EUR_FEMALE_N_BI_GENOS=2041;EUR_FEMALE_N_HOMREF=2040;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.99951;EUR_FEMALE_FREQ_HET=0.000489956;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000404 | |
| 315 1 79210 gnomAD-SV_v2.1_INS_1_5 N <INS> 329 PASS END=79211;SVTYPE=INS;SVLEN=53;CHR2=1;POS2=79213;END2=79214;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=21694;AC=1;AF=4.6e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21914e-05;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5527;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.000180897;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=1;EUR_AF=0.000131;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3811;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999738;EUR_FREQ_HET=0.000262329;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=1;EUR_MALE_AF=0.000294;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1700;EUR_MALE_N_HET=1;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.999412;EUR_MALE_FREQ_HET=0.000587889;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000131 | |
| 316 1 86749 gnomAD-SV_v2.1_BND_1_2 N <BND> 999 UNRESOLVED END=86750;SVTYPE=BND;SVLEN=16053;CHR2=1;POS2=102802;END2=102803;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=BAF,PE,SR;UNRESOLVED_TYPE=SINGLE_ENDER_-+;AN=21694;AC=2;AF=9.2e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=0;N_HOMALT=1;FREQ_HOMREF=0.999908;FREQ_HET=0;FREQ_HOMALT=9.21914e-05;MALE_AN=11056;MALE_AC=2;MALE_AF=0.000181;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5527;MALE_N_HET=0;MALE_N_HOMALT=1;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0.000180897;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=2;AFR_AF=0.00021;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4766;AFR_N_HET=0;AFR_N_HOMALT=1;AFR_FREQ_HOMREF=0.99979;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0.000209776;AFR_MALE_AN=5230;AFR_MALE_AC=2;AFR_MALE_AF=0.000382;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2614;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=1;AFR_MALE_FREQ_HOMREF=0.999618;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0.000382409;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.00021 | |
| 317 1 94000 gnomAD-SV_v2.1_MCNV_1_2 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6> 999 MULTIALLELIC END=129400;SVTYPE=MCNV;SVLEN=35400;ALGORITHMS=depth;EVIDENCE=RD;PCRPLUS_DEPLETED;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=10307;AC=0,585,6302,1911,1277,228,4;AF=0,0.056758,0.611429,0.185408,0.123896,0.022121,0.000388;MALE_AN=5222;MALE_AC=0,314,3099,975,701,131,2;MALE_AF=0,0.06013,0.593451,0.18671,0.13424,0.025086,0.000383;FEMALE_AN=5066;FEMALE_AC=0,271,3191,932,574,96,2;FEMALE_AF=0,0.053494,0.629886,0.183972,0.113304,0.01895,0.000395;AFR_AN=4543;AFR_AC=0,309,2815,851,506,60,2;AFR_AF=0,0.068017,0.619635,0.187321,0.11138,0.013207,0.00044;AFR_MALE_AN=2480;AFR_MALE_AC=0,180,1543,442,288,27,0;AFR_MALE_AF=0,0.072581,0.622177,0.178226,0.116129,0.010887,0;AFR_FEMALE_AN=2059;AFR_FEMALE_AC=0,129,1270,407,218,33,2;AFR_FEMALE_AF=0,0.062652,0.616804,0.197669,0.105877,0.016027,0.000971;AMR_AN=735;AMR_AC=0,43,486,142,56,8,0;AMR_AF=0,0.058503,0.661224,0.193197,0.07619,0.010884,0;AMR_MALE_AN=350;AMR_MALE_AC=0,21,219,75,31,4,0;AMR_MALE_AF=0,0.06,0.625714,0.214286,0.088571,0.011429,0;AMR_FEMALE_AN=383;AMR_FEMALE_AC=0,22,266,66,25,4,0;AMR_FEMALE_AF=0,0.057441,0.694517,0.172324,0.065274,0.010444,0;EAS_AN=1208;EAS_AC=0,2,153,326,569,156,2;EAS_AF=0,0.001656,0.126656,0.269868,0.471026,0.129139,0.001656;EAS_MALE_AN=694;EAS_MALE_AC=0,2,97,185,311,97,2;EAS_MALE_AF=0,0.002882,0.139769,0.266571,0.448127,0.139769,0.002882;EAS_FEMALE_AN=510;EAS_FEMALE_AC=0,0,56,140,256,58,0;EAS_FEMALE_AF=0,0,0.109804,0.27451,0.501961,0.113725,0;EUR_AN=3726;EUR_AC=0,223,2792,576,131,4,0;EUR_AF=0,0.05985,0.749329,0.154589,0.035158,0.001074,0;EUR_MALE_AN=1660;EUR_MALE_AC=0,107,1222,267,61,3,0;EUR_MALE_AF=0,0.064458,0.736145,0.160843,0.036747,0.001807,0;EUR_FEMALE_AN=2057;EUR_FEMALE_AC=0,116,1561,309,70,1,0;EUR_FEMALE_AF=0,0.056393,0.758872,0.150219,0.03403,0.000486,0;OTH_AN=95;OTH_AC=0,8,56,16,15,0,0;OTH_AF=0,0.084211,0.589474,0.168421,0.157895,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,4,18,6,10,0,0;OTH_MALE_AF=0,0.105263,0.473684,0.157895,0.263158,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,4,38,10,5,0,0;OTH_FEMALE_AF=0,0.070175,0.666667,0.175439,0.087719,0,0 | |
| 318 1 121035 gnomAD-SV_v2.1_DUP_1_2 N <DUP> 210 UNSTABLE_AF_PCRMINUS END=121130;SVTYPE=DUP;SVLEN=95;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=19480;AC=129;AF=0.006622;N_BI_GENOS=9740;N_HOMREF=9611;N_HET=129;N_HOMALT=0;FREQ_HOMREF=0.986756;FREQ_HET=0.0132444;FREQ_HOMALT=0;MALE_AN=9830;MALE_AC=73;MALE_AF=0.007426;MALE_N_BI_GENOS=4915;MALE_N_HOMREF=4842;MALE_N_HET=73;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.985148;MALE_FREQ_HET=0.0148525;MALE_FREQ_HOMALT=0;FEMALE_AN=9614;FEMALE_AC=56;FEMALE_AF=0.005825;FEMALE_N_BI_GENOS=4807;FEMALE_N_HOMREF=4751;FEMALE_N_HET=56;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.98835;FEMALE_FREQ_HET=0.0116497;FEMALE_FREQ_HOMALT=0;AFR_AN=8092;AFR_AC=126;AFR_AF=0.015571;AFR_N_BI_GENOS=4046;AFR_N_HOMREF=3920;AFR_N_HET=126;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.968858;AFR_FREQ_HET=0.0311419;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4400;AFR_MALE_AC=72;AFR_MALE_AF=0.016364;AFR_MALE_N_BI_GENOS=2200;AFR_MALE_N_HOMREF=2128;AFR_MALE_N_HET=72;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.967273;AFR_MALE_FREQ_HET=0.0327273;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3686;AFR_FEMALE_AC=54;AFR_FEMALE_AF=0.01465;AFR_FEMALE_N_BI_GENOS=1843;AFR_FEMALE_N_HOMREF=1789;AFR_FEMALE_N_HET=54;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.9707;AFR_FEMALE_FREQ_HET=0.0293001;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1442;AMR_AC=1;AMR_AF=0.000693;AMR_N_BI_GENOS=721;AMR_N_HOMREF=720;AMR_N_HET=1;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.998613;AMR_FREQ_HET=0.00138696;AMR_FREQ_HOMALT=0;AMR_MALE_AN=690;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=345;AMR_MALE_N_HOMREF=345;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=748;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.001337;AMR_FEMALE_N_BI_GENOS=374;AMR_FEMALE_N_HOMREF=373;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997326;AMR_FEMALE_FREQ_HET=0.0026738;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2394;EAS_AC=1;EAS_AF=0.000418;EAS_N_BI_GENOS=1197;EAS_N_HOMREF=1196;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999165;EAS_FREQ_HET=0.000835422;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1378;EAS_MALE_AC=1;EAS_MALE_AF=0.000726;EAS_MALE_N_BI_GENOS=689;EAS_MALE_N_HOMREF=688;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.998549;EAS_MALE_FREQ_HET=0.00145138;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1008;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=504;EAS_FEMALE_N_HOMREF=504;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7374;EUR_AC=1;EUR_AF=0.000136;EUR_N_BI_GENOS=3687;EUR_N_HOMREF=3686;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999729;EUR_FREQ_HET=0.000271223;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3288;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1644;EUR_MALE_N_HOMREF=1644;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4068;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000246;EUR_FEMALE_N_BI_GENOS=2034;EUR_FEMALE_N_HOMREF=2033;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999508;EUR_FEMALE_FREQ_HET=0.000491642;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=178;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=89;OTH_N_HOMREF=89;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=74;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=37;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=104;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=52;OTH_FEMALE_N_HOMREF=52;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.015571 | |
| 319 1 123350 gnomAD-SV_v2.1_MCNV_1_3 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6> 999 MULTIALLELIC END=140100;SVTYPE=MCNV;SVLEN=16750;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__MSV_EXON_OVR=AL627309.1;AN=10847;AC=0,127,6272,2822,1410,211,5;AF=0,0.011708,0.578224,0.260164,0.12999,0.019452,0.000461;MALE_AN=5528;MALE_AC=0,69,3096,1456,792,111,4;MALE_AF=0,0.012482,0.560058,0.263386,0.143271,0.02008,0.000724;FEMALE_AN=5296;FEMALE_AC=0,58,3163,1358,617,99,1;FEMALE_AF=0,0.010952,0.597243,0.25642,0.116503,0.018693,0.000189;AFR_AN=4767;AFR_AC=0,107,2943,1187,472,58,0;AFR_AF=0,0.022446,0.617369,0.249004,0.099014,0.012167,0;AFR_MALE_AN=2615;AFR_MALE_AC=0,61,1636,635,257,26,0;AFR_MALE_AF=0,0.023327,0.625621,0.24283,0.098279,0.009943,0;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=0,46,1303,550,215,32,0;AFR_FEMALE_AF=0,0.021435,0.607176,0.256291,0.100186,0.014911,0;AMR_AN=965;AMR_AC=0,7,529,307,112,10,0;AMR_AF=0,0.007254,0.548187,0.318135,0.116062,0.010363,0;AMR_MALE_AN=480;AMR_MALE_AC=0,3,249,159,64,5,0;AMR_MALE_AF=0,0.00625,0.51875,0.33125,0.133333,0.010417,0;AMR_FEMALE_AN=481;AMR_FEMALE_AC=0,4,278,146,48,5,0;AMR_FEMALE_AF=0,0.008316,0.577963,0.303534,0.099792,0.010395,0;EAS_AN=1208;EAS_AC=0,0,69,414,584,136,5;EAS_AF=0,0,0.057119,0.342715,0.483444,0.112583,0.004139;EAS_MALE_AN=694;EAS_MALE_AC=0,0,39,227,349,75,4;EAS_MALE_AF=0,0,0.056196,0.327089,0.502882,0.108069,0.005764;EAS_FEMALE_AN=510;EAS_FEMALE_AC=0,0,30,185,234,60,1;EAS_FEMALE_AF=0,0,0.058824,0.362745,0.458824,0.117647,0.001961;EUR_AN=3812;EUR_AC=0,12,2675,889,230,6,0;EUR_AF=0,0.003148,0.701731,0.233211,0.060336,0.001574,0;EUR_MALE_AN=1701;EUR_MALE_AC=0,5,1153,424,115,4,0;EUR_MALE_AF=0,0.002939,0.677837,0.249265,0.067607,0.002352,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=0,7,1515,463,115,2,0;EUR_FEMALE_AF=0,0.00333,0.720742,0.220266,0.05471,0.000951,0;OTH_AN=95;OTH_AC=0,1,56,25,12,1,0;OTH_AF=0,0.010526,0.589474,0.263158,0.126316,0.010526,0;OTH_MALE_AN=38;OTH_MALE_AC=0,0,19,11,7,1,0;OTH_MALE_AF=0,0,0.5,0.289474,0.184211,0.026316,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,1,37,14,5,0,0;OTH_FEMALE_AF=0,0.017544,0.649123,0.245614,0.087719,0,0 | |
| 320 1 137000 gnomAD-SV_v2.1_DUP_1_3 N <DUP> 999 PASS END=155500;SVTYPE=DUP;SVLEN=18500;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__DUP_PARTIAL=AL627309.1;AN=21308;AC=2533;AF=0.118876;N_BI_GENOS=10654;N_HOMREF=8498;N_HET=1779;N_HOMALT=377;FREQ_HOMREF=0.797635;FREQ_HET=0.16698;FREQ_HOMALT=0.0353858;MALE_AN=10838;MALE_AC=1355;MALE_AF=0.125023;MALE_N_BI_GENOS=5419;MALE_N_HOMREF=4269;MALE_N_HET=945;MALE_N_HOMALT=205;MALE_FREQ_HOMREF=0.787784;MALE_FREQ_HET=0.174386;MALE_FREQ_HOMALT=0.0378299;FEMALE_AN=10426;FEMALE_AC=1171;FEMALE_AF=0.112315;FEMALE_N_BI_GENOS=5213;FEMALE_N_HOMREF=4212;FEMALE_N_HET=831;FEMALE_N_HOMALT=170;FEMALE_FREQ_HOMREF=0.80798;FEMALE_FREQ_HET=0.159409;FEMALE_FREQ_HOMALT=0.0326108;AFR_AN=9390;AFR_AC=973;AFR_AF=0.103621;AFR_N_BI_GENOS=4695;AFR_N_HOMREF=3835;AFR_N_HET=747;AFR_N_HOMALT=113;AFR_FREQ_HOMREF=0.816826;AFR_FREQ_HET=0.159105;AFR_FREQ_HOMALT=0.0240682;AFR_MALE_AN=5140;AFR_MALE_AC=509;AFR_MALE_AF=0.099027;AFR_MALE_N_BI_GENOS=2570;AFR_MALE_N_HOMREF=2121;AFR_MALE_N_HET=389;AFR_MALE_N_HOMALT=60;AFR_MALE_FREQ_HOMREF=0.825292;AFR_MALE_FREQ_HET=0.151362;AFR_MALE_FREQ_HOMALT=0.0233463;AFR_FEMALE_AN=4238;AFR_FEMALE_AC=464;AFR_FEMALE_AF=0.109486;AFR_FEMALE_N_BI_GENOS=2119;AFR_FEMALE_N_HOMREF=1708;AFR_FEMALE_N_HET=358;AFR_FEMALE_N_HOMALT=53;AFR_FEMALE_FREQ_HOMREF=0.806041;AFR_FEMALE_FREQ_HET=0.168948;AFR_FEMALE_FREQ_HOMALT=0.0250118;AMR_AN=1770;AMR_AC=219;AMR_AF=0.123729;AMR_N_BI_GENOS=885;AMR_N_HOMREF=701;AMR_N_HET=149;AMR_N_HOMALT=35;AMR_FREQ_HOMREF=0.79209;AMR_FREQ_HET=0.168362;AMR_FREQ_HOMALT=0.039548;AMR_MALE_AN=870;AMR_MALE_AC=120;AMR_MALE_AF=0.137931;AMR_MALE_N_BI_GENOS=435;AMR_MALE_N_HOMREF=333;AMR_MALE_N_HET=84;AMR_MALE_N_HOMALT=18;AMR_MALE_FREQ_HOMREF=0.765517;AMR_MALE_FREQ_HET=0.193103;AMR_MALE_FREQ_HOMALT=0.0413793;AMR_FEMALE_AN=894;AMR_FEMALE_AC=98;AMR_FEMALE_AF=0.10962;AMR_FEMALE_N_BI_GENOS=447;AMR_FEMALE_N_HOMREF=366;AMR_FEMALE_N_HET=64;AMR_FEMALE_N_HOMALT=17;AMR_FEMALE_FREQ_HOMREF=0.818792;AMR_FEMALE_FREQ_HET=0.143177;AMR_FEMALE_FREQ_HOMALT=0.0380313;EAS_AN=2416;EAS_AC=918;EAS_AF=0.379967;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=484;EAS_N_HET=530;EAS_N_HOMALT=194;EAS_FREQ_HOMREF=0.400662;EAS_FREQ_HET=0.438742;EAS_FREQ_HOMALT=0.160596;EAS_MALE_AN=1388;EAS_MALE_AC=532;EAS_MALE_AF=0.383285;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=277;EAS_MALE_N_HET=302;EAS_MALE_N_HOMALT=115;EAS_MALE_FREQ_HOMREF=0.399135;EAS_MALE_FREQ_HET=0.435158;EAS_MALE_FREQ_HOMALT=0.165706;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=381;EAS_FEMALE_AF=0.373529;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=206;EAS_FEMALE_N_HET=227;EAS_FEMALE_N_HOMALT=77;EAS_FEMALE_FREQ_HOMREF=0.403922;EAS_FEMALE_FREQ_HET=0.445098;EAS_FEMALE_FREQ_HOMALT=0.15098;EUR_AN=7542;EUR_AC=401;EUR_AF=0.053169;EUR_N_BI_GENOS=3771;EUR_N_HOMREF=3403;EUR_N_HET=335;EUR_N_HOMALT=33;EUR_FREQ_HOMREF=0.902413;EUR_FREQ_HET=0.0888359;EUR_FREQ_HOMALT=0.00875099;EUR_MALE_AN=3364;EUR_MALE_AC=184;EUR_MALE_AF=0.054697;EUR_MALE_N_BI_GENOS=1682;EUR_MALE_N_HOMREF=1509;EUR_MALE_N_HET=162;EUR_MALE_N_HOMALT=11;EUR_MALE_FREQ_HOMREF=0.897146;EUR_MALE_FREQ_HET=0.0963139;EUR_MALE_FREQ_HOMALT=0.00653983;EUR_FEMALE_AN=4160;EUR_FEMALE_AC=216;EUR_FEMALE_AF=0.051923;EUR_FEMALE_N_BI_GENOS=2080;EUR_FEMALE_N_HOMREF=1886;EUR_FEMALE_N_HET=172;EUR_FEMALE_N_HOMALT=22;EUR_FEMALE_FREQ_HOMREF=0.906731;EUR_FEMALE_FREQ_HET=0.0826923;EUR_FEMALE_FREQ_HOMALT=0.0105769;OTH_AN=190;OTH_AC=22;OTH_AF=0.115789;OTH_N_BI_GENOS=95;OTH_N_HOMREF=75;OTH_N_HET=18;OTH_N_HOMALT=2;OTH_FREQ_HOMREF=0.789474;OTH_FREQ_HET=0.189474;OTH_FREQ_HOMALT=0.0210526;OTH_MALE_AN=76;OTH_MALE_AC=10;OTH_MALE_AF=0.131579;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=29;OTH_MALE_N_HET=8;OTH_MALE_N_HOMALT=1;OTH_MALE_FREQ_HOMREF=0.763158;OTH_MALE_FREQ_HET=0.210526;OTH_MALE_FREQ_HOMALT=0.0263158;OTH_FEMALE_AN=114;OTH_FEMALE_AC=12;OTH_FEMALE_AF=0.105263;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=46;OTH_FEMALE_N_HET=10;OTH_FEMALE_N_HOMALT=1;OTH_FEMALE_FREQ_HOMREF=0.807018;OTH_FEMALE_FREQ_HET=0.175439;OTH_FEMALE_FREQ_HOMALT=0.0175439;POPMAX_AF=0.379967 | |
| 321 1 141475 gnomAD-SV_v2.1_DUP_1_4 N <DUP> 999 PASS END=155000;SVTYPE=DUP;SVLEN=13525;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=18710;AC=127;AF=0.006788;N_BI_GENOS=9355;N_HOMREF=9228;N_HET=127;N_HOMALT=0;FREQ_HOMREF=0.986424;FREQ_HET=0.0135756;FREQ_HOMALT=0;MALE_AN=9598;MALE_AC=68;MALE_AF=0.007085;MALE_N_BI_GENOS=4799;MALE_N_HOMREF=4731;MALE_N_HET=68;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.98583;MALE_FREQ_HET=0.0141696;MALE_FREQ_HOMALT=0;FEMALE_AN=9078;FEMALE_AC=59;FEMALE_AF=0.006499;FEMALE_N_BI_GENOS=4539;FEMALE_N_HOMREF=4480;FEMALE_N_HET=59;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.987002;FEMALE_FREQ_HET=0.0129985;FEMALE_FREQ_HOMALT=0;AFR_AN=8772;AFR_AC=122;AFR_AF=0.013908;AFR_N_BI_GENOS=4386;AFR_N_HOMREF=4264;AFR_N_HET=122;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.972184;AFR_FREQ_HET=0.0278158;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4802;AFR_MALE_AC=65;AFR_MALE_AF=0.013536;AFR_MALE_N_BI_GENOS=2401;AFR_MALE_N_HOMREF=2336;AFR_MALE_N_HET=65;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.972928;AFR_MALE_FREQ_HET=0.0270721;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3960;AFR_FEMALE_AC=57;AFR_FEMALE_AF=0.014394;AFR_FEMALE_N_BI_GENOS=1980;AFR_FEMALE_N_HOMREF=1923;AFR_FEMALE_N_HET=57;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.971212;AFR_FEMALE_FREQ_HET=0.0287879;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1606;AMR_AC=1;AMR_AF=0.000623;AMR_N_BI_GENOS=803;AMR_N_HOMREF=802;AMR_N_HET=1;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.998755;AMR_FREQ_HET=0.00124533;AMR_FREQ_HOMALT=0;AMR_MALE_AN=796;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=398;AMR_MALE_N_HOMREF=398;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=806;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.001241;AMR_FEMALE_N_BI_GENOS=403;AMR_FEMALE_N_HOMREF=402;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997519;AMR_FEMALE_FREQ_HET=0.00248139;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2214;EAS_AC=3;EAS_AF=0.001355;EAS_N_BI_GENOS=1107;EAS_N_HOMREF=1104;EAS_N_HET=3;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.99729;EAS_FREQ_HET=0.00271003;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1280;EAS_MALE_AC=2;EAS_MALE_AF=0.001563;EAS_MALE_N_BI_GENOS=640;EAS_MALE_N_HOMREF=638;EAS_MALE_N_HET=2;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.996875;EAS_MALE_FREQ_HET=0.003125;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=926;EAS_FEMALE_AC=1;EAS_FEMALE_AF=0.00108;EAS_FEMALE_N_BI_GENOS=463;EAS_FEMALE_N_HOMREF=462;EAS_FEMALE_N_HET=1;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.99784;EAS_FEMALE_FREQ_HET=0.00215983;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5958;EUR_AC=1;EUR_AF=0.000168;EUR_N_BI_GENOS=2979;EUR_N_HOMREF=2978;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999664;EUR_FREQ_HET=0.000335683;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2654;EUR_MALE_AC=1;EUR_MALE_AF=0.000377;EUR_MALE_N_BI_GENOS=1327;EUR_MALE_N_HOMREF=1326;EUR_MALE_N_HET=1;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.999246;EUR_MALE_FREQ_HET=0.000753579;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3292;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1646;EUR_FEMALE_N_HOMREF=1646;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=160;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=80;OTH_N_HOMREF=80;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=66;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=33;OTH_MALE_N_HOMREF=33;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=94;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=47;OTH_FEMALE_N_HOMREF=47;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.013908 | |
| 322 1 150000 gnomAD-SV_v2.1_DEL_1_7 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=155000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=12824;AC=1076;AF=0.083905;N_BI_GENOS=6412;N_HOMREF=5337;N_HET=1074;N_HOMALT=1;FREQ_HOMREF=0.832346;FREQ_HET=0.167498;FREQ_HOMALT=0.000155958;MALE_AN=6488;MALE_AC=515;MALE_AF=0.079377;MALE_N_BI_GENOS=3244;MALE_N_HOMREF=2729;MALE_N_HET=515;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.841245;MALE_FREQ_HET=0.158755;MALE_FREQ_HOMALT=0;FEMALE_AN=6312;FEMALE_AC=559;FEMALE_AF=0.088561;FEMALE_N_BI_GENOS=3156;FEMALE_N_HOMREF=2598;FEMALE_N_HET=557;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.823194;FEMALE_FREQ_HET=0.176489;FEMALE_FREQ_HOMALT=0.000316857;AFR_AN=6336;AFR_AC=333;AFR_AF=0.052557;AFR_N_BI_GENOS=3168;AFR_N_HOMREF=2836;AFR_N_HET=331;AFR_N_HOMALT=1;AFR_FREQ_HOMREF=0.895202;AFR_FREQ_HET=0.104482;AFR_FREQ_HOMALT=0.000315657;AFR_MALE_AN=3394;AFR_MALE_AC=183;AFR_MALE_AF=0.053919;AFR_MALE_N_BI_GENOS=1697;AFR_MALE_N_HOMREF=1514;AFR_MALE_N_HET=183;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.892163;AFR_MALE_FREQ_HET=0.107837;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2938;AFR_FEMALE_AC=150;AFR_FEMALE_AF=0.051055;AFR_FEMALE_N_BI_GENOS=1469;AFR_FEMALE_N_HOMREF=1320;AFR_FEMALE_N_HET=148;AFR_FEMALE_N_HOMALT=1;AFR_FEMALE_FREQ_HOMREF=0.89857;AFR_FEMALE_FREQ_HET=0.100749;AFR_FEMALE_FREQ_HOMALT=0.000680735;AMR_AN=856;AMR_AC=77;AMR_AF=0.089953;AMR_N_BI_GENOS=428;AMR_N_HOMREF=351;AMR_N_HET=77;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.820093;AMR_FREQ_HET=0.179907;AMR_FREQ_HOMALT=0;AMR_MALE_AN=410;AMR_MALE_AC=35;AMR_MALE_AF=0.085366;AMR_MALE_N_BI_GENOS=205;AMR_MALE_N_HOMREF=170;AMR_MALE_N_HET=35;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.829268;AMR_MALE_FREQ_HET=0.170732;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=442;AMR_FEMALE_AC=41;AMR_FEMALE_AF=0.09276;AMR_FEMALE_N_BI_GENOS=221;AMR_FEMALE_N_HOMREF=180;AMR_FEMALE_N_HET=41;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.81448;AMR_FEMALE_FREQ_HET=0.18552;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1454;EAS_AC=72;EAS_AF=0.049519;EAS_N_BI_GENOS=727;EAS_N_HOMREF=655;EAS_N_HET=72;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.900963;EAS_FREQ_HET=0.0990371;EAS_FREQ_HOMALT=0;EAS_MALE_AN=842;EAS_MALE_AC=41;EAS_MALE_AF=0.048694;EAS_MALE_N_BI_GENOS=421;EAS_MALE_N_HOMREF=380;EAS_MALE_N_HET=41;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.902613;EAS_MALE_FREQ_HET=0.0973872;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=606;EAS_FEMALE_AC=31;EAS_FEMALE_AF=0.051155;EAS_FEMALE_N_BI_GENOS=303;EAS_FEMALE_N_HOMREF=272;EAS_FEMALE_N_HET=31;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.89769;EAS_FEMALE_FREQ_HET=0.10231;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4056;EUR_AC=581;EUR_AF=0.143245;EUR_N_BI_GENOS=2028;EUR_N_HOMREF=1447;EUR_N_HET=581;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.713511;EUR_FREQ_HET=0.286489;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1786;EUR_MALE_AC=248;EUR_MALE_AF=0.138858;EUR_MALE_N_BI_GENOS=893;EUR_MALE_N_HOMREF=645;EUR_MALE_N_HET=248;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.722284;EUR_MALE_FREQ_HET=0.277716;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2260;EUR_FEMALE_AC=332;EUR_FEMALE_AF=0.146903;EUR_FEMALE_N_BI_GENOS=1130;EUR_FEMALE_N_HOMREF=798;EUR_FEMALE_N_HET=332;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.706195;EUR_FEMALE_FREQ_HET=0.293805;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=122;OTH_AC=13;OTH_AF=0.106557;OTH_N_BI_GENOS=61;OTH_N_HOMREF=48;OTH_N_HET=13;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.786885;OTH_FREQ_HET=0.213115;OTH_FREQ_HOMALT=0;OTH_MALE_AN=56;OTH_MALE_AC=8;OTH_MALE_AF=0.142857;OTH_MALE_N_BI_GENOS=28;OTH_MALE_N_HOMREF=20;OTH_MALE_N_HET=8;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.714286;OTH_MALE_FREQ_HET=0.285714;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=66;OTH_FEMALE_AC=5;OTH_FEMALE_AF=0.075758;OTH_FEMALE_N_BI_GENOS=33;OTH_FEMALE_N_HOMREF=28;OTH_FEMALE_N_HET=5;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.848485;OTH_FEMALE_FREQ_HET=0.151515;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.143245 | |
| 323 1 152000 gnomAD-SV_v2.1_DUP_1_5 N <DUP> 999 LOW_CALL_RATE END=177400;SVTYPE=DUP;SVLEN=25400;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=12878;AC=77;AF=0.005979;N_BI_GENOS=6439;N_HOMREF=6367;N_HET=67;N_HOMALT=5;FREQ_HOMREF=0.988818;FREQ_HET=0.0104053;FREQ_HOMALT=0.000776518;MALE_AN=6596;MALE_AC=41;MALE_AF=0.006216;MALE_N_BI_GENOS=3298;MALE_N_HOMREF=3260;MALE_N_HET=35;MALE_N_HOMALT=3;MALE_FREQ_HOMREF=0.988478;MALE_FREQ_HET=0.0106125;MALE_FREQ_HOMALT=0.000909642;FEMALE_AN=6250;FEMALE_AC=36;FEMALE_AF=0.00576;FEMALE_N_BI_GENOS=3125;FEMALE_N_HOMREF=3091;FEMALE_N_HET=32;FEMALE_N_HOMALT=2;FEMALE_FREQ_HOMREF=0.98912;FEMALE_FREQ_HET=0.01024;FEMALE_FREQ_HOMALT=0.00064;AFR_AN=6420;AFR_AC=77;AFR_AF=0.011994;AFR_N_BI_GENOS=3210;AFR_N_HOMREF=3138;AFR_N_HET=67;AFR_N_HOMALT=5;AFR_FREQ_HOMREF=0.97757;AFR_FREQ_HET=0.0208723;AFR_FREQ_HOMALT=0.00155763;AFR_MALE_AN=3502;AFR_MALE_AC=41;AFR_MALE_AF=0.011708;AFR_MALE_N_BI_GENOS=1751;AFR_MALE_N_HOMREF=1713;AFR_MALE_N_HET=35;AFR_MALE_N_HOMALT=3;AFR_MALE_FREQ_HOMREF=0.978298;AFR_MALE_FREQ_HET=0.0199886;AFR_MALE_FREQ_HOMALT=0.00171331;AFR_FEMALE_AN=2910;AFR_FEMALE_AC=36;AFR_FEMALE_AF=0.012371;AFR_FEMALE_N_BI_GENOS=1455;AFR_FEMALE_N_HOMREF=1421;AFR_FEMALE_N_HET=32;AFR_FEMALE_N_HOMALT=2;AFR_FEMALE_FREQ_HOMREF=0.976632;AFR_FEMALE_FREQ_HET=0.0219931;AFR_FEMALE_FREQ_HOMALT=0.00137457;AMR_AN=912;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=456;AMR_N_HOMREF=456;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=440;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=220;AMR_MALE_N_HOMREF=220;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=466;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=233;AMR_FEMALE_N_HOMREF=233;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1192;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=596;EAS_N_HOMREF=596;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=704;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=352;EAS_MALE_N_HOMREF=352;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=484;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=242;EAS_FEMALE_N_HOMREF=242;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4252;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=2126;EUR_N_HOMREF=2126;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1912;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=956;EUR_MALE_N_HOMREF=956;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2326;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1163;EUR_FEMALE_N_HOMREF=1163;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=102;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=51;OTH_N_HOMREF=51;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=38;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=19;OTH_MALE_N_HOMREF=19;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=64;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=32;OTH_FEMALE_N_HOMREF=32;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.011994 | |
| 324 1 157000 gnomAD-SV_v2.1_DUP_1_6 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=166000;SVTYPE=DUP;SVLEN=9000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=13770;AC=384;AF=0.027887;N_BI_GENOS=6885;N_HOMREF=6505;N_HET=376;N_HOMALT=4;FREQ_HOMREF=0.944808;FREQ_HET=0.0546115;FREQ_HOMALT=0.000580973;MALE_AN=6834;MALE_AC=214;MALE_AF=0.031314;MALE_N_BI_GENOS=3417;MALE_N_HOMREF=3206;MALE_N_HET=208;MALE_N_HOMALT=3;MALE_FREQ_HOMREF=0.93825;MALE_FREQ_HET=0.0608721;MALE_FREQ_HOMALT=0.000877963;FEMALE_AN=6902;FEMALE_AC=167;FEMALE_AF=0.024196;FEMALE_N_BI_GENOS=3451;FEMALE_N_HOMREF=3285;FEMALE_N_HET=165;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.951898;FEMALE_FREQ_HET=0.0478122;FEMALE_FREQ_HOMALT=0.000289771;AFR_AN=5434;AFR_AC=256;AFR_AF=0.047111;AFR_N_BI_GENOS=2717;AFR_N_HOMREF=2464;AFR_N_HET=250;AFR_N_HOMALT=3;AFR_FREQ_HOMREF=0.906883;AFR_FREQ_HET=0.0920132;AFR_FREQ_HOMALT=0.00110416;AFR_MALE_AN=2946;AFR_MALE_AC=141;AFR_MALE_AF=0.047862;AFR_MALE_N_BI_GENOS=1473;AFR_MALE_N_HOMREF=1334;AFR_MALE_N_HET=137;AFR_MALE_N_HOMALT=2;AFR_MALE_FREQ_HOMREF=0.905635;AFR_MALE_FREQ_HET=0.0930075;AFR_MALE_FREQ_HOMALT=0.00135777;AFR_FEMALE_AN=2480;AFR_FEMALE_AC=113;AFR_FEMALE_AF=0.045565;AFR_FEMALE_N_BI_GENOS=1240;AFR_FEMALE_N_HOMREF=1128;AFR_FEMALE_N_HET=111;AFR_FEMALE_N_HOMALT=1;AFR_FEMALE_FREQ_HOMREF=0.909677;AFR_FEMALE_FREQ_HET=0.0895161;AFR_FEMALE_FREQ_HOMALT=0.000806452;AMR_AN=970;AMR_AC=23;AMR_AF=0.023711;AMR_N_BI_GENOS=485;AMR_N_HOMREF=462;AMR_N_HET=23;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.952577;AMR_FREQ_HET=0.0474227;AMR_FREQ_HOMALT=0;AMR_MALE_AN=446;AMR_MALE_AC=14;AMR_MALE_AF=0.03139;AMR_MALE_N_BI_GENOS=223;AMR_MALE_N_HOMREF=209;AMR_MALE_N_HET=14;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.93722;AMR_MALE_FREQ_HET=0.0627803;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=522;AMR_FEMALE_AC=9;AMR_FEMALE_AF=0.017241;AMR_FEMALE_N_BI_GENOS=261;AMR_FEMALE_N_HOMREF=252;AMR_FEMALE_N_HET=9;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.965517;AMR_FEMALE_FREQ_HET=0.0344828;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1366;EAS_AC=71;EAS_AF=0.051977;EAS_N_BI_GENOS=683;EAS_N_HOMREF=613;EAS_N_HET=69;EAS_N_HOMALT=1;EAS_FREQ_HOMREF=0.897511;EAS_FREQ_HET=0.101025;EAS_FREQ_HOMALT=0.00146413;EAS_MALE_AN=784;EAS_MALE_AC=46;EAS_MALE_AF=0.058673;EAS_MALE_N_BI_GENOS=392;EAS_MALE_N_HOMREF=347;EAS_MALE_N_HET=44;EAS_MALE_N_HOMALT=1;EAS_MALE_FREQ_HOMREF=0.885204;EAS_MALE_FREQ_HET=0.112245;EAS_MALE_FREQ_HOMALT=0.00255102;EAS_FEMALE_AN=576;EAS_FEMALE_AC=24;EAS_FEMALE_AF=0.041667;EAS_FEMALE_N_BI_GENOS=288;EAS_FEMALE_N_HOMREF=264;EAS_FEMALE_N_HET=24;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.916667;EAS_FEMALE_FREQ_HET=0.0833333;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5874;EUR_AC=31;EUR_AF=0.005277;EUR_N_BI_GENOS=2937;EUR_N_HOMREF=2906;EUR_N_HET=31;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.989445;EUR_FREQ_HET=0.010555;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2612;EUR_MALE_AC=13;EUR_MALE_AF=0.004977;EUR_MALE_N_BI_GENOS=1306;EUR_MALE_N_HOMREF=1293;EUR_MALE_N_HET=13;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.990046;EUR_MALE_FREQ_HET=0.00995406;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3244;EUR_FEMALE_AC=18;EUR_FEMALE_AF=0.005549;EUR_FEMALE_N_BI_GENOS=1622;EUR_FEMALE_N_HOMREF=1604;EUR_FEMALE_N_HET=18;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.988903;EUR_FEMALE_FREQ_HET=0.0110974;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=126;OTH_AC=3;OTH_AF=0.02381;OTH_N_BI_GENOS=63;OTH_N_HOMREF=60;OTH_N_HET=3;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.952381;OTH_FREQ_HET=0.047619;OTH_FREQ_HOMALT=0;OTH_MALE_AN=46;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=23;OTH_MALE_N_HOMREF=23;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=80;OTH_FEMALE_AC=3;OTH_FEMALE_AF=0.0375;OTH_FEMALE_N_BI_GENOS=40;OTH_FEMALE_N_HOMREF=37;OTH_FEMALE_N_HET=3;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.925;OTH_FEMALE_FREQ_HET=0.075;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.051977 | |
| 325 1 167900 gnomAD-SV_v2.1_DUP_1_7 N <DUP> 46 PCRPLUS_ENRICHED;LOW_CALL_RATE END=174000;SVTYPE=DUP;SVLEN=6100;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=796;AC=76;AF=0.095477;N_BI_GENOS=398;N_HOMREF=322;N_HET=76;N_HOMALT=0;FREQ_HOMREF=0.809045;FREQ_HET=0.190955;FREQ_HOMALT=0;MALE_AN=444;MALE_AC=39;MALE_AF=0.087838;MALE_N_BI_GENOS=222;MALE_N_HOMREF=183;MALE_N_HET=39;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.824324;MALE_FREQ_HET=0.175676;MALE_FREQ_HOMALT=0;FEMALE_AN=346;FEMALE_AC=37;FEMALE_AF=0.106936;FEMALE_N_BI_GENOS=173;FEMALE_N_HOMREF=136;FEMALE_N_HET=37;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.786127;FEMALE_FREQ_HET=0.213873;FEMALE_FREQ_HOMALT=0;AFR_AN=342;AFR_AC=36;AFR_AF=0.105263;AFR_N_BI_GENOS=171;AFR_N_HOMREF=135;AFR_N_HET=36;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.789474;AFR_FREQ_HET=0.210526;AFR_FREQ_HOMALT=0;AFR_MALE_AN=206;AFR_MALE_AC=19;AFR_MALE_AF=0.092233;AFR_MALE_N_BI_GENOS=103;AFR_MALE_N_HOMREF=84;AFR_MALE_N_HET=19;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.815534;AFR_MALE_FREQ_HET=0.184466;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=134;AFR_FEMALE_AC=17;AFR_FEMALE_AF=0.126866;AFR_FEMALE_N_BI_GENOS=67;AFR_FEMALE_N_HOMREF=50;AFR_FEMALE_N_HET=17;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.746269;AFR_FEMALE_FREQ_HET=0.253731;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=348;AMR_AC=24;AMR_AF=0.068966;AMR_N_BI_GENOS=174;AMR_N_HOMREF=150;AMR_N_HET=24;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.862069;AMR_FREQ_HET=0.137931;AMR_FREQ_HOMALT=0;AMR_MALE_AN=190;AMR_MALE_AC=12;AMR_MALE_AF=0.063158;AMR_MALE_N_BI_GENOS=95;AMR_MALE_N_HOMREF=83;AMR_MALE_N_HET=12;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.873684;AMR_MALE_FREQ_HET=0.126316;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=154;AMR_FEMALE_AC=12;AMR_FEMALE_AF=0.077922;AMR_FEMALE_N_BI_GENOS=77;AMR_FEMALE_N_HOMREF=65;AMR_FEMALE_N_HET=12;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.844156;AMR_FEMALE_FREQ_HET=0.155844;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=0;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=0;EAS_N_HOMREF=0;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=0;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=0;EAS_MALE_N_HOMREF=0;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=0;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=0;EAS_FEMALE_N_HOMREF=0;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=106;EUR_AC=16;EUR_AF=0.150943;EUR_N_BI_GENOS=53;EUR_N_HOMREF=37;EUR_N_HET=16;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.698113;EUR_FREQ_HET=0.301887;EUR_FREQ_HOMALT=0;EUR_MALE_AN=48;EUR_MALE_AC=8;EUR_MALE_AF=0.166667;EUR_MALE_N_BI_GENOS=24;EUR_MALE_N_HOMREF=16;EUR_MALE_N_HET=8;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.666667;EUR_MALE_FREQ_HET=0.333333;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=58;EUR_FEMALE_AC=8;EUR_FEMALE_AF=0.137931;EUR_FEMALE_N_BI_GENOS=29;EUR_FEMALE_N_HOMREF=21;EUR_FEMALE_N_HET=8;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.724138;EUR_FEMALE_FREQ_HET=0.275862;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=0;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=0;OTH_N_HOMREF=0;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=0;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=0;OTH_MALE_N_HOMREF=0;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=0;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=0;OTH_FEMALE_N_HOMREF=0;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.150943 | |
| 326 1 227750 gnomAD-SV_v2.1_MCNV_1_4 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7> 999 MULTIALLELIC END=259300;SVTYPE=MCNV;SVLEN=31550;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=10847;AC=0,103,5512,3531,1539,155,7,0;AF=0,0.009496,0.508159,0.325528,0.141883,0.01429,0.000645,0;MALE_AN=5528;MALE_AC=0,60,2888,1760,744,71,5,0;MALE_AF=0,0.010854,0.522431,0.318379,0.134588,0.012844,0.000904,0;FEMALE_AN=5296;FEMALE_AC=0,42,2610,1764,794,84,2,0;FEMALE_AF=0,0.007931,0.492825,0.333082,0.149924,0.015861,0.000378,0;AFR_AN=4767;AFR_AC=0,74,2934,1287,440,32,0,0;AFR_AF=0,0.015523,0.615481,0.269981,0.092301,0.006713,0,0;AFR_MALE_AN=2615;AFR_MALE_AC=0,46,1633,706,214,16,0,0;AFR_MALE_AF=0,0.017591,0.624474,0.269981,0.081836,0.006119,0,0;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=0,27,1297,580,226,16,0,0;AFR_FEMALE_AF=0,0.012582,0.60438,0.27027,0.105312,0.007456,0,0;AMR_AN=965;AMR_AC=0,10,422,286,219,27,1,0;AMR_AF=0,0.010363,0.437306,0.296373,0.226943,0.027979,0.001036,0;AMR_MALE_AN=480;AMR_MALE_AC=0,6,205,148,105,15,1,0;AMR_MALE_AF=0,0.0125,0.427083,0.308333,0.21875,0.03125,0.002083,0;AMR_FEMALE_AN=481;AMR_FEMALE_AC=0,4,213,138,114,12,0,0;AMR_FEMALE_AF=0,0.008316,0.442827,0.286902,0.237006,0.024948,0,0;EAS_AN=1208;EAS_AC=0,1,488,421,257,37,4,0;EAS_AF=0,0.000828,0.403974,0.34851,0.212748,0.030629,0.003311,0;EAS_MALE_AN=694;EAS_MALE_AC=0,0,279,245,153,15,2,0;EAS_MALE_AF=0,0,0.402017,0.353026,0.220461,0.021614,0.002882,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=0,1,207,175,103,22,2,0;EAS_FEMALE_AF=0,0.001961,0.405882,0.343137,0.201961,0.043137,0.003922,0;EUR_AN=3812;EUR_AC=0,17,1627,1499,610,57,2,0;EUR_AF=0,0.00446,0.42681,0.393232,0.160021,0.014953,0.000525,0;EUR_MALE_AN=1701;EUR_MALE_AC=0,7,755,643,269,25,2,0;EUR_MALE_AF=0,0.004115,0.443857,0.378013,0.158142,0.014697,0.001176,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=0,10,868,851,341,32,0,0;EUR_FEMALE_AF=0,0.004757,0.41294,0.404853,0.162226,0.015224,0,0;OTH_AN=95;OTH_AC=0,1,41,38,13,2,0,0;OTH_AF=0,0.010526,0.431579,0.4,0.136842,0.021053,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,1,16,18,3,0,0,0;OTH_MALE_AF=0,0.026316,0.421053,0.473684,0.078947,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,0,25,20,10,2,0,0;OTH_FEMALE_AF=0,0,0.438596,0.350877,0.175439,0.035088,0,0 | |
| 327 1 243916 gnomAD-SV_v2.1_DEL_1_8 N <DEL> 835 PASS END=244232;SVTYPE=DEL;SVLEN=316;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=21694;AC=1;AF=4.6e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21914e-05;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5528;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=1;FEMALE_AF=9.4e-05;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5295;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999811;FEMALE_FREQ_HET=0.000188822;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=1;EUR_AF=0.000131;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3811;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999738;EUR_FREQ_HET=0.000262329;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000238;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2101;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999524;EUR_FEMALE_FREQ_HET=0.000475737;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000131 | |
| 328 1 251748 gnomAD-SV_v2.1_BND_1_3 N <BND> 432 UNRESOLVED END=251749;SVTYPE=BND;SVLEN=6352;CHR2=1;POS2=258100;END2=258101;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=SR;UNRESOLVED_TYPE=SINGLE_ENDER_+-;AN=21694;AC=7;AF=0.000323;N_BI_GENOS=10847;N_HOMREF=10840;N_HET=7;N_HOMALT=0;FREQ_HOMREF=0.999355;FREQ_HET=0.00064534;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=3;MALE_AF=0.000271;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5525;MALE_N_HET=3;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999457;MALE_FREQ_HET=0.000542692;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=4;FEMALE_AF=0.000378;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5292;FEMALE_N_HET=4;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999245;FEMALE_FREQ_HET=0.000755287;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=7;AFR_AF=0.000734;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4760;AFR_N_HET=7;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.998532;AFR_FREQ_HET=0.00146843;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=3;AFR_MALE_AF=0.000574;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2612;AFR_MALE_N_HET=3;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.998853;AFR_MALE_FREQ_HET=0.00114723;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=4;AFR_FEMALE_AF=0.000932;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2142;AFR_FEMALE_N_HET=4;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.998136;AFR_FEMALE_FREQ_HET=0.00186393;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000734 | |
| 329 1 317719 gnomAD-SV_v2.1_DUP_1_8 N <DUP> 138 LOW_CALL_RATE END=367000;SVTYPE=DUP;SVLEN=49281;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;PROTEIN_CODING__PROMOTER=OR4F29;AN=11056;AC=1;AF=9e-05;N_BI_GENOS=5528;N_HOMREF=5527;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999819;FREQ_HET=0.000180897;FREQ_HOMALT=0;MALE_AN=5562;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=2781;MALE_N_HOMREF=2781;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=5472;FEMALE_AC=1;FEMALE_AF=0.000183;FEMALE_N_BI_GENOS=2736;FEMALE_N_HOMREF=2735;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999635;FEMALE_FREQ_HET=0.000365497;FEMALE_FREQ_HOMALT=0;AFR_AN=5438;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=2719;AFR_N_HOMREF=2719;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=2938;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=1469;AFR_MALE_N_HOMREF=1469;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2494;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=1247;AFR_FEMALE_N_HOMREF=1247;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=920;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=460;AMR_N_HOMREF=460;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=446;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=223;AMR_MALE_N_HOMREF=223;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=466;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=233;AMR_FEMALE_N_HOMREF=233;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=522;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=261;EAS_N_HOMREF=261;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=278;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=139;EAS_MALE_N_HOMREF=139;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=244;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=122;EAS_FEMALE_N_HOMREF=122;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4082;EUR_AC=1;EUR_AF=0.000245;EUR_N_BI_GENOS=2041;EUR_N_HOMREF=2040;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.99951;EUR_FREQ_HET=0.000489956;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1856;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=928;EUR_MALE_N_HOMREF=928;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2218;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000451;EUR_FEMALE_N_BI_GENOS=1109;EUR_FEMALE_N_HOMREF=1108;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999098;EUR_FEMALE_FREQ_HET=0.000901713;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=94;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=47;OTH_N_HOMREF=47;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=44;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=22;OTH_MALE_N_HOMREF=22;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=50;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=25;OTH_FEMALE_N_HOMREF=25;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000245 | |
| 330 1 320000 gnomAD-SV_v2.1_DEL_1_9 N <DEL> 999 PASS END=327650;SVTYPE=DEL;SVLEN=7650;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=21694;AC=3283;AF=0.151332;N_BI_GENOS=10847;N_HOMREF=7564;N_HET=3283;N_HOMALT=0;FREQ_HOMREF=0.697336;FREQ_HET=0.302664;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=1783;MALE_AF=0.16127;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=3745;MALE_N_HET=1783;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.67746;MALE_FREQ_HET=0.32254;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=1492;FEMALE_AF=0.140861;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=3804;FEMALE_N_HET=1492;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.718278;FEMALE_FREQ_HET=0.281722;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=2881;AFR_AF=0.302182;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=1886;AFR_N_HET=2881;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.395637;AFR_FREQ_HET=0.604363;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=1604;AFR_MALE_AF=0.306692;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=1011;AFR_MALE_N_HET=1604;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.386616;AFR_MALE_FREQ_HET=0.613384;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=1272;AFR_FEMALE_AF=0.296365;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=874;AFR_FEMALE_N_HET=1272;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.407269;AFR_FEMALE_FREQ_HET=0.592731;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=40;AMR_AF=0.020725;AMR_N_BI_GENOS=965;AMR_N_HOMREF=925;AMR_N_HET=40;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.958549;AMR_FREQ_HET=0.0414508;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=18;AMR_MALE_AF=0.01875;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=462;AMR_MALE_N_HET=18;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.9625;AMR_MALE_FREQ_HET=0.0375;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=22;AMR_FEMALE_AF=0.022869;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=459;AMR_FEMALE_N_HET=22;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.954262;AMR_FEMALE_FREQ_HET=0.045738;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=197;EAS_AF=0.08154;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1011;EAS_N_HET=197;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.836921;EAS_FREQ_HET=0.163079;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=105;EAS_MALE_AF=0.075648;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=589;EAS_MALE_N_HET=105;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.848703;EAS_MALE_FREQ_HET=0.151297;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=91;EAS_FEMALE_AF=0.089216;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=419;EAS_FEMALE_N_HET=91;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.821569;EAS_FEMALE_FREQ_HET=0.178431;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=151;EUR_AF=0.019806;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3661;EUR_N_HET=151;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.960388;EUR_FREQ_HET=0.0396118;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=50;EUR_MALE_AF=0.014697;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1651;EUR_MALE_N_HET=50;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.970606;EUR_MALE_FREQ_HET=0.0293945;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=99;EUR_FEMALE_AF=0.023549;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2003;EUR_FEMALE_N_HET=99;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.952902;EUR_FEMALE_FREQ_HET=0.047098;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=14;OTH_AF=0.073684;OTH_N_BI_GENOS=95;OTH_N_HOMREF=81;OTH_N_HET=14;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.852632;OTH_FREQ_HET=0.147368;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=6;OTH_MALE_AF=0.078947;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=32;OTH_MALE_N_HET=6;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.842105;OTH_MALE_FREQ_HET=0.157895;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=8;OTH_FEMALE_AF=0.070175;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=49;OTH_FEMALE_N_HET=8;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.859649;OTH_FEMALE_FREQ_HET=0.140351;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.302182 | |
| 331 1 353800 gnomAD-SV_v2.1_DUP_1_11 N <DUP> 564 LOW_CALL_RATE END=363550;SVTYPE=DUP;SVLEN=9750;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=12658;AC=1;AF=7.9e-05;N_BI_GENOS=6329;N_HOMREF=6328;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999842;FREQ_HET=0.000158003;FREQ_HOMALT=0;MALE_AN=6398;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=3199;MALE_N_HOMREF=3199;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=6238;FEMALE_AC=1;FEMALE_AF=0.00016;FEMALE_N_BI_GENOS=3119;FEMALE_N_HOMREF=3118;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999679;FEMALE_FREQ_HET=0.000320616;FEMALE_FREQ_HOMALT=0;AFR_AN=5740;AFR_AC=1;AFR_AF=0.000174;AFR_N_BI_GENOS=2870;AFR_N_HOMREF=2869;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999652;AFR_FREQ_HET=0.000348432;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3150;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=1575;AFR_MALE_N_HOMREF=1575;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2588;AFR_FEMALE_AC=1;AFR_FEMALE_AF=0.000386;AFR_FEMALE_N_BI_GENOS=1294;AFR_FEMALE_N_HOMREF=1293;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.999227;AFR_FEMALE_FREQ_HET=0.000772798;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1078;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=539;AMR_N_HOMREF=539;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=540;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=270;AMR_MALE_N_HOMREF=270;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=536;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=268;AMR_FEMALE_N_HOMREF=268;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1652;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=826;EAS_N_HOMREF=826;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=928;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=464;EAS_MALE_N_HOMREF=464;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=716;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=358;EAS_FEMALE_N_HOMREF=358;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4080;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=2040;EUR_N_HOMREF=2040;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1742;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=871;EUR_MALE_N_HOMREF=871;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2328;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1164;EUR_FEMALE_N_HOMREF=1164;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=108;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=54;OTH_N_HOMREF=54;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=38;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=19;OTH_MALE_N_HOMREF=19;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=70;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=35;OTH_FEMALE_N_HOMREF=35;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000174 | |
| 332 1 354000 gnomAD-SV_v2.1_DEL_1_10 N <DEL> 999 PASS END=359000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=21694;AC=5225;AF=0.24085;N_BI_GENOS=10847;N_HOMREF=5622;N_HET=5225;N_HOMALT=0;FREQ_HOMREF=0.5183;FREQ_HET=0.4817;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=2699;MALE_AF=0.244121;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=2829;MALE_N_HET=2699;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.511758;MALE_FREQ_HET=0.488242;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=2512;FEMALE_AF=0.23716;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=2784;FEMALE_N_HET=2512;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.52568;FEMALE_FREQ_HET=0.47432;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=1806;AFR_AF=0.189427;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=2961;AFR_N_HET=1806;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.621145;AFR_FREQ_HET=0.378855;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=995;AFR_MALE_AF=0.190249;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=1620;AFR_MALE_N_HET=995;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.619503;AFR_MALE_FREQ_HET=0.380497;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=810;AFR_FEMALE_AF=0.188723;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=1336;AFR_FEMALE_N_HET=810;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.622554;AFR_FEMALE_FREQ_HET=0.377446;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=630;AMR_AF=0.326425;AMR_N_BI_GENOS=965;AMR_N_HOMREF=335;AMR_N_HET=630;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.34715;AMR_FREQ_HET=0.65285;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=317;AMR_MALE_AF=0.330208;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=163;AMR_MALE_N_HET=317;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.339583;AMR_MALE_FREQ_HET=0.660417;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=311;AMR_FEMALE_AF=0.323285;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=170;AMR_FEMALE_N_HET=311;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.35343;AMR_FEMALE_FREQ_HET=0.64657;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=1011;EAS_AF=0.41846;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=197;EAS_N_HET=1011;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.163079;EAS_FREQ_HET=0.836921;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=583;EAS_MALE_AF=0.420029;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=111;EAS_MALE_N_HET=583;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.159942;EAS_MALE_FREQ_HET=0.840058;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=424;EAS_FEMALE_AF=0.415686;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=86;EAS_FEMALE_N_HET=424;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.168627;EAS_FEMALE_FREQ_HET=0.831373;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=1728;EUR_AF=0.226653;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=2084;EUR_N_HET=1728;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.546695;EUR_FREQ_HET=0.453305;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=786;EUR_MALE_AF=0.231041;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=915;EUR_MALE_N_HET=786;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.537919;EUR_MALE_FREQ_HET=0.462081;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=935;EUR_FEMALE_AF=0.222407;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=1167;EUR_FEMALE_N_HET=935;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.555186;EUR_FEMALE_FREQ_HET=0.444814;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=50;OTH_AF=0.263158;OTH_N_BI_GENOS=95;OTH_N_HOMREF=45;OTH_N_HET=50;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.473684;OTH_FREQ_HET=0.526316;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=18;OTH_MALE_AF=0.236842;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=20;OTH_MALE_N_HET=18;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.526316;OTH_MALE_FREQ_HET=0.473684;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=32;OTH_FEMALE_AF=0.280702;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=25;OTH_FEMALE_N_HET=32;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.438596;OTH_FEMALE_FREQ_HET=0.561404;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.41846 | |
| 333 1 361000 gnomAD-SV_v2.1_DUP_1_12 N <DUP> 999 LOW_CALL_RATE END=366100;SVTYPE=DUP;SVLEN=5100;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F29;AN=13766;AC=22;AF=0.001598;N_BI_GENOS=6883;N_HOMREF=6861;N_HET=22;N_HOMALT=0;FREQ_HOMREF=0.996804;FREQ_HET=0.00319628;FREQ_HOMALT=0;MALE_AN=7130;MALE_AC=10;MALE_AF=0.001403;MALE_N_BI_GENOS=3565;MALE_N_HOMREF=3555;MALE_N_HET=10;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.997195;MALE_FREQ_HET=0.00280505;MALE_FREQ_HOMALT=0;FEMALE_AN=6606;FEMALE_AC=12;FEMALE_AF=0.001817;FEMALE_N_BI_GENOS=3303;FEMALE_N_HOMREF=3291;FEMALE_N_HET=12;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.996367;FEMALE_FREQ_HET=0.00363306;FEMALE_FREQ_HOMALT=0;AFR_AN=6664;AFR_AC=22;AFR_AF=0.003301;AFR_N_BI_GENOS=3332;AFR_N_HOMREF=3310;AFR_N_HET=22;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.993397;AFR_FREQ_HET=0.00660264;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3686;AFR_MALE_AC=10;AFR_MALE_AF=0.002713;AFR_MALE_N_BI_GENOS=1843;AFR_MALE_N_HOMREF=1833;AFR_MALE_N_HET=10;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.994574;AFR_MALE_FREQ_HET=0.00542594;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2972;AFR_FEMALE_AC=12;AFR_FEMALE_AF=0.004038;AFR_FEMALE_N_BI_GENOS=1486;AFR_FEMALE_N_HOMREF=1474;AFR_FEMALE_N_HET=12;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.991925;AFR_FEMALE_FREQ_HET=0.00807537;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1136;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=568;AMR_N_HOMREF=568;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=564;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=282;AMR_MALE_N_HOMREF=282;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=568;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=284;AMR_FEMALE_N_HOMREF=284;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1510;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=755;EAS_N_HOMREF=755;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=866;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=433;EAS_MALE_N_HOMREF=433;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=636;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=318;EAS_FEMALE_N_HOMREF=318;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4340;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=2170;EUR_N_HOMREF=2170;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1974;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=987;EUR_MALE_N_HOMREF=987;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2354;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1177;EUR_FEMALE_N_HOMREF=1177;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=116;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=58;OTH_N_HOMREF=58;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=40;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=20;OTH_MALE_N_HOMREF=20;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=76;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=38;OTH_FEMALE_N_HOMREF=38;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.003301 | |
| 334 1 364000 gnomAD-SV_v2.1_DEL_1_11 N <DEL> 999 PASS END=401750;SVTYPE=DEL;SVLEN=37750;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__LOF=OR4F29;AN=21694;AC=4087;AF=0.188393;N_BI_GENOS=10847;N_HOMREF=6760;N_HET=4087;N_HOMALT=0;FREQ_HOMREF=0.623214;FREQ_HET=0.376786;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=2181;MALE_AF=0.197268;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=3347;MALE_N_HET=2181;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.605463;MALE_FREQ_HET=0.394537;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=1900;FEMALE_AF=0.179381;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=3396;FEMALE_N_HET=1900;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.641239;FEMALE_FREQ_HET=0.358761;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=2447;AFR_AF=0.25666;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=2320;AFR_N_HET=2447;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.486679;AFR_FREQ_HET=0.513321;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=1346;AFR_MALE_AF=0.257361;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=1269;AFR_MALE_N_HET=1346;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.485277;AFR_MALE_FREQ_HET=0.514723;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=1099;AFR_FEMALE_AF=0.256058;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=1047;AFR_FEMALE_N_HET=1099;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.487884;AFR_FEMALE_FREQ_HET=0.512116;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=239;AMR_AF=0.123834;AMR_N_BI_GENOS=965;AMR_N_HOMREF=726;AMR_N_HET=239;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.752332;AMR_FREQ_HET=0.247668;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=132;AMR_MALE_AF=0.1375;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=348;AMR_MALE_N_HET=132;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.725;AMR_MALE_FREQ_HET=0.275;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=107;AMR_FEMALE_AF=0.111227;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=374;AMR_FEMALE_N_HET=107;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.777547;AMR_FEMALE_FREQ_HET=0.222453;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=613;EAS_AF=0.253725;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=595;EAS_N_HET=613;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.49255;EAS_FREQ_HET=0.50745;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=359;EAS_MALE_AF=0.258646;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=335;EAS_MALE_N_HET=359;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.482709;EAS_MALE_FREQ_HET=0.517291;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=252;EAS_FEMALE_AF=0.247059;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=258;EAS_FEMALE_N_HET=252;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.505882;EAS_FEMALE_FREQ_HET=0.494118;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=761;EUR_AF=0.099816;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3051;EUR_N_HET=761;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.800367;EUR_FREQ_HET=0.199633;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=333;EUR_MALE_AF=0.097884;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1368;EUR_MALE_N_HET=333;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.804233;EUR_MALE_FREQ_HET=0.195767;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=426;EUR_FEMALE_AF=0.101332;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=1676;EUR_FEMALE_N_HET=426;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.797336;EUR_FEMALE_FREQ_HET=0.202664;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=27;OTH_AF=0.142105;OTH_N_BI_GENOS=95;OTH_N_HOMREF=68;OTH_N_HET=27;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.715789;OTH_FREQ_HET=0.284211;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=11;OTH_MALE_AF=0.144737;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=27;OTH_MALE_N_HET=11;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.710526;OTH_MALE_FREQ_HET=0.289474;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=16;OTH_FEMALE_AF=0.140351;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=41;OTH_FEMALE_N_HET=16;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.719298;OTH_FEMALE_FREQ_HET=0.280702;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.25666 | |
| 335 1 364300 gnomAD-SV_v2.1_DEL_1_12 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=370000;SVTYPE=DEL;SVLEN=5700;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__LOF=OR4F29;AN=12156;AC=659;AF=0.054212;N_BI_GENOS=6078;N_HOMREF=5419;N_HET=659;N_HOMALT=0;FREQ_HOMREF=0.891576;FREQ_HET=0.108424;FREQ_HOMALT=0;MALE_AN=6318;MALE_AC=317;MALE_AF=0.050174;MALE_N_BI_GENOS=3159;MALE_N_HOMREF=2842;MALE_N_HET=317;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.899652;MALE_FREQ_HET=0.100348;MALE_FREQ_HOMALT=0;FEMALE_AN=5824;FEMALE_AC=341;FEMALE_AF=0.058551;FEMALE_N_BI_GENOS=2912;FEMALE_N_HOMREF=2571;FEMALE_N_HET=341;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.882898;FEMALE_FREQ_HET=0.117102;FEMALE_FREQ_HOMALT=0;AFR_AN=6092;AFR_AC=172;AFR_AF=0.028234;AFR_N_BI_GENOS=3046;AFR_N_HOMREF=2874;AFR_N_HET=172;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.943533;AFR_FREQ_HET=0.0564675;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3362;AFR_MALE_AC=93;AFR_MALE_AF=0.027662;AFR_MALE_N_BI_GENOS=1681;AFR_MALE_N_HOMREF=1588;AFR_MALE_N_HET=93;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.944676;AFR_MALE_FREQ_HET=0.0553242;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2722;AFR_FEMALE_AC=79;AFR_FEMALE_AF=0.029023;AFR_FEMALE_N_BI_GENOS=1361;AFR_FEMALE_N_HOMREF=1282;AFR_FEMALE_N_HET=79;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.941954;AFR_FEMALE_FREQ_HET=0.0580456;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=756;AMR_AC=66;AMR_AF=0.087302;AMR_N_BI_GENOS=378;AMR_N_HOMREF=312;AMR_N_HET=66;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.825397;AMR_FREQ_HET=0.174603;AMR_FREQ_HOMALT=0;AMR_MALE_AN=352;AMR_MALE_AC=27;AMR_MALE_AF=0.076705;AMR_MALE_N_BI_GENOS=176;AMR_MALE_N_HOMREF=149;AMR_MALE_N_HET=27;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.846591;AMR_MALE_FREQ_HET=0.153409;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=402;AMR_FEMALE_AC=38;AMR_FEMALE_AF=0.094527;AMR_FEMALE_N_BI_GENOS=201;AMR_FEMALE_N_HOMREF=163;AMR_FEMALE_N_HET=38;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.810945;AMR_FEMALE_FREQ_HET=0.189055;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1584;EAS_AC=103;EAS_AF=0.065025;EAS_N_BI_GENOS=792;EAS_N_HOMREF=689;EAS_N_HET=103;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.86995;EAS_FREQ_HET=0.130051;EAS_FREQ_HOMALT=0;EAS_MALE_AN=922;EAS_MALE_AC=64;EAS_MALE_AF=0.069414;EAS_MALE_N_BI_GENOS=461;EAS_MALE_N_HOMREF=397;EAS_MALE_N_HET=64;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.861171;EAS_MALE_FREQ_HET=0.138829;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=660;EAS_FEMALE_AC=39;EAS_FEMALE_AF=0.059091;EAS_FEMALE_N_BI_GENOS=330;EAS_FEMALE_N_HOMREF=291;EAS_FEMALE_N_HET=39;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.881818;EAS_FEMALE_FREQ_HET=0.118182;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=3620;EUR_AC=310;EUR_AF=0.085635;EUR_N_BI_GENOS=1810;EUR_N_HOMREF=1500;EUR_N_HET=310;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.828729;EUR_FREQ_HET=0.171271;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1644;EUR_MALE_AC=130;EUR_MALE_AF=0.079075;EUR_MALE_N_BI_GENOS=822;EUR_MALE_N_HOMREF=692;EUR_MALE_N_HET=130;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.841849;EUR_MALE_FREQ_HET=0.158151;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=1974;EUR_FEMALE_AC=180;EUR_FEMALE_AF=0.091185;EUR_FEMALE_N_BI_GENOS=987;EUR_FEMALE_N_HOMREF=807;EUR_FEMALE_N_HET=180;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.817629;EUR_FEMALE_FREQ_HET=0.182371;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=104;OTH_AC=8;OTH_AF=0.076923;OTH_N_BI_GENOS=52;OTH_N_HOMREF=44;OTH_N_HET=8;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.846154;OTH_FREQ_HET=0.153846;OTH_FREQ_HOMALT=0;OTH_MALE_AN=38;OTH_MALE_AC=3;OTH_MALE_AF=0.078947;OTH_MALE_N_BI_GENOS=19;OTH_MALE_N_HOMREF=16;OTH_MALE_N_HET=3;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.842105;OTH_MALE_FREQ_HET=0.157895;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=66;OTH_FEMALE_AC=5;OTH_FEMALE_AF=0.075758;OTH_FEMALE_N_BI_GENOS=33;OTH_FEMALE_N_HOMREF=28;OTH_FEMALE_N_HET=5;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.848485;OTH_FEMALE_FREQ_HET=0.151515;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.087302 | |
| 336 1 367000 gnomAD-SV_v2.1_DEL_1_13 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=384100;SVTYPE=DEL;SVLEN=17100;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__LOF=OR4F29;AN=13928;AC=1978;AF=0.142016;N_BI_GENOS=6964;N_HOMREF=4986;N_HET=1978;N_HOMALT=0;FREQ_HOMREF=0.715968;FREQ_HET=0.284032;FREQ_HOMALT=0;MALE_AN=7134;MALE_AC=1029;MALE_AF=0.144239;MALE_N_BI_GENOS=3567;MALE_N_HOMREF=2538;MALE_N_HET=1029;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.711522;MALE_FREQ_HET=0.288478;MALE_FREQ_HOMALT=0;FEMALE_AN=6766;FEMALE_AC=944;FEMALE_AF=0.139521;FEMALE_N_BI_GENOS=3383;FEMALE_N_HOMREF=2439;FEMALE_N_HET=944;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.720958;FEMALE_FREQ_HET=0.279042;FEMALE_FREQ_HOMALT=0;AFR_AN=6376;AFR_AC=1157;AFR_AF=0.181462;AFR_N_BI_GENOS=3188;AFR_N_HOMREF=2031;AFR_N_HET=1157;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.637077;AFR_FREQ_HET=0.362923;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3500;AFR_MALE_AC=651;AFR_MALE_AF=0.186;AFR_MALE_N_BI_GENOS=1750;AFR_MALE_N_HOMREF=1099;AFR_MALE_N_HET=651;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.628;AFR_MALE_FREQ_HET=0.372;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2868;AFR_FEMALE_AC=505;AFR_FEMALE_AF=0.176081;AFR_FEMALE_N_BI_GENOS=1434;AFR_FEMALE_N_HOMREF=929;AFR_FEMALE_N_HET=505;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.647838;AFR_FEMALE_FREQ_HET=0.352162;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=976;AMR_AC=121;AMR_AF=0.123975;AMR_N_BI_GENOS=488;AMR_N_HOMREF=367;AMR_N_HET=121;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.752049;AMR_FREQ_HET=0.247951;AMR_FREQ_HOMALT=0;AMR_MALE_AN=468;AMR_MALE_AC=60;AMR_MALE_AF=0.128205;AMR_MALE_N_BI_GENOS=234;AMR_MALE_N_HOMREF=174;AMR_MALE_N_HET=60;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.74359;AMR_MALE_FREQ_HET=0.25641;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=506;AMR_FEMALE_AC=61;AMR_FEMALE_AF=0.120553;AMR_FEMALE_N_BI_GENOS=253;AMR_FEMALE_N_HOMREF=192;AMR_FEMALE_N_HET=61;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.758893;AMR_FEMALE_FREQ_HET=0.241107;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1652;EAS_AC=126;EAS_AF=0.076271;EAS_N_BI_GENOS=826;EAS_N_HOMREF=700;EAS_N_HET=126;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.847458;EAS_FREQ_HET=0.152542;EAS_FREQ_HOMALT=0;EAS_MALE_AN=934;EAS_MALE_AC=65;EAS_MALE_AF=0.069593;EAS_MALE_N_BI_GENOS=467;EAS_MALE_N_HOMREF=402;EAS_MALE_N_HET=65;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.860814;EAS_MALE_FREQ_HET=0.139186;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=712;EAS_FEMALE_AC=60;EAS_FEMALE_AF=0.08427;EAS_FEMALE_N_BI_GENOS=356;EAS_FEMALE_N_HOMREF=296;EAS_FEMALE_N_HET=60;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.831461;EAS_FEMALE_FREQ_HET=0.168539;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4796;EUR_AC=557;EUR_AF=0.116138;EUR_N_BI_GENOS=2398;EUR_N_HOMREF=1841;EUR_N_HET=557;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.767723;EUR_FREQ_HET=0.232277;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2180;EUR_MALE_AC=248;EUR_MALE_AF=0.113761;EUR_MALE_N_BI_GENOS=1090;EUR_MALE_N_HOMREF=842;EUR_MALE_N_HET=248;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.772477;EUR_MALE_FREQ_HET=0.227523;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2604;EUR_FEMALE_AC=306;EUR_FEMALE_AF=0.117512;EUR_FEMALE_N_BI_GENOS=1302;EUR_FEMALE_N_HOMREF=996;EUR_FEMALE_N_HET=306;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.764977;EUR_FEMALE_FREQ_HET=0.235023;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=128;OTH_AC=17;OTH_AF=0.132812;OTH_N_BI_GENOS=64;OTH_N_HOMREF=47;OTH_N_HET=17;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.734375;OTH_FREQ_HET=0.265625;OTH_FREQ_HOMALT=0;OTH_MALE_AN=52;OTH_MALE_AC=5;OTH_MALE_AF=0.096154;OTH_MALE_N_BI_GENOS=26;OTH_MALE_N_HOMREF=21;OTH_MALE_N_HET=5;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.807692;OTH_MALE_FREQ_HET=0.192308;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=76;OTH_FEMALE_AC=12;OTH_FEMALE_AF=0.157895;OTH_FEMALE_N_BI_GENOS=38;OTH_FEMALE_N_HOMREF=26;OTH_FEMALE_N_HET=12;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.684211;OTH_FEMALE_FREQ_HET=0.315789;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.181462 | |
| 337 1 369000 gnomAD-SV_v2.1_DEL_1_14 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=374000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=7410;AC=101;AF=0.01363;N_BI_GENOS=3705;N_HOMREF=3604;N_HET=101;N_HOMALT=0;FREQ_HOMREF=0.97274;FREQ_HET=0.0272605;FREQ_HOMALT=0;MALE_AN=3780;MALE_AC=44;MALE_AF=0.01164;MALE_N_BI_GENOS=1890;MALE_N_HOMREF=1846;MALE_N_HET=44;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.97672;MALE_FREQ_HET=0.0232804;MALE_FREQ_HOMALT=0;FEMALE_AN=3608;FEMALE_AC=55;FEMALE_AF=0.015244;FEMALE_N_BI_GENOS=1804;FEMALE_N_HOMREF=1749;FEMALE_N_HET=55;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.969512;FEMALE_FREQ_HET=0.0304878;FEMALE_FREQ_HOMALT=0;AFR_AN=3410;AFR_AC=33;AFR_AF=0.009677;AFR_N_BI_GENOS=1705;AFR_N_HOMREF=1672;AFR_N_HET=33;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.980645;AFR_FREQ_HET=0.0193548;AFR_FREQ_HOMALT=0;AFR_MALE_AN=1856;AFR_MALE_AC=13;AFR_MALE_AF=0.007004;AFR_MALE_N_BI_GENOS=928;AFR_MALE_N_HOMREF=915;AFR_MALE_N_HET=13;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.985991;AFR_MALE_FREQ_HET=0.0140086;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=1550;AFR_FEMALE_AC=20;AFR_FEMALE_AF=0.012903;AFR_FEMALE_N_BI_GENOS=775;AFR_FEMALE_N_HOMREF=755;AFR_FEMALE_N_HET=20;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.974194;AFR_FEMALE_FREQ_HET=0.0258065;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=522;AMR_AC=8;AMR_AF=0.015326;AMR_N_BI_GENOS=261;AMR_N_HOMREF=253;AMR_N_HET=8;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.969349;AMR_FREQ_HET=0.0306513;AMR_FREQ_HOMALT=0;AMR_MALE_AN=274;AMR_MALE_AC=6;AMR_MALE_AF=0.021898;AMR_MALE_N_BI_GENOS=137;AMR_MALE_N_HOMREF=131;AMR_MALE_N_HET=6;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.956204;AMR_MALE_FREQ_HET=0.0437956;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=244;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.004098;AMR_FEMALE_N_BI_GENOS=122;AMR_FEMALE_N_HOMREF=121;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.991803;AMR_FEMALE_FREQ_HET=0.00819672;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=914;EAS_AC=19;EAS_AF=0.020788;EAS_N_BI_GENOS=457;EAS_N_HOMREF=438;EAS_N_HET=19;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.958425;EAS_FREQ_HET=0.0415755;EAS_FREQ_HOMALT=0;EAS_MALE_AN=486;EAS_MALE_AC=8;EAS_MALE_AF=0.016461;EAS_MALE_N_BI_GENOS=243;EAS_MALE_N_HOMREF=235;EAS_MALE_N_HET=8;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.967078;EAS_MALE_FREQ_HET=0.0329218;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=424;EAS_FEMALE_AC=11;EAS_FEMALE_AF=0.025943;EAS_FEMALE_N_BI_GENOS=212;EAS_FEMALE_N_HOMREF=201;EAS_FEMALE_N_HET=11;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.948113;EAS_FEMALE_FREQ_HET=0.0518868;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=2484;EUR_AC=40;EUR_AF=0.016103;EUR_N_BI_GENOS=1242;EUR_N_HOMREF=1202;EUR_N_HET=40;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.967794;EUR_FREQ_HET=0.0322061;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1134;EUR_MALE_AC=17;EUR_MALE_AF=0.014991;EUR_MALE_N_BI_GENOS=567;EUR_MALE_N_HOMREF=550;EUR_MALE_N_HET=17;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.970018;EUR_MALE_FREQ_HET=0.0299824;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=1340;EUR_FEMALE_AC=22;EUR_FEMALE_AF=0.016418;EUR_FEMALE_N_BI_GENOS=670;EUR_FEMALE_N_HOMREF=648;EUR_FEMALE_N_HET=22;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.967164;EUR_FEMALE_FREQ_HET=0.0328358;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=80;OTH_AC=1;OTH_AF=0.0125;OTH_N_BI_GENOS=40;OTH_N_HOMREF=39;OTH_N_HET=1;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.975;OTH_FREQ_HET=0.025;OTH_FREQ_HOMALT=0;OTH_MALE_AN=30;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=15;OTH_MALE_N_HOMREF=15;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=50;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.02;OTH_FEMALE_N_BI_GENOS=25;OTH_FEMALE_N_HOMREF=24;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.96;OTH_FEMALE_FREQ_HET=0.04;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.020788 | |
| 338 1 371200 gnomAD-SV_v2.1_DEL_1_15 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=376900;SVTYPE=DEL;SVLEN=5700;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=13450;AC=332;AF=0.024684;N_BI_GENOS=6725;N_HOMREF=6393;N_HET=332;N_HOMALT=0;FREQ_HOMREF=0.950632;FREQ_HET=0.049368;FREQ_HOMALT=0;MALE_AN=6922;MALE_AC=177;MALE_AF=0.025571;MALE_N_BI_GENOS=3461;MALE_N_HOMREF=3284;MALE_N_HET=177;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.948859;MALE_FREQ_HET=0.0511413;MALE_FREQ_HOMALT=0;FEMALE_AN=6504;FEMALE_AC=155;FEMALE_AF=0.023831;FEMALE_N_BI_GENOS=3252;FEMALE_N_HOMREF=3097;FEMALE_N_HET=155;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.952337;FEMALE_FREQ_HET=0.047663;FEMALE_FREQ_HOMALT=0;AFR_AN=6238;AFR_AC=188;AFR_AF=0.030138;AFR_N_BI_GENOS=3119;AFR_N_HOMREF=2931;AFR_N_HET=188;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.939724;AFR_FREQ_HET=0.0602757;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3430;AFR_MALE_AC=102;AFR_MALE_AF=0.029738;AFR_MALE_N_BI_GENOS=1715;AFR_MALE_N_HOMREF=1613;AFR_MALE_N_HET=102;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.940525;AFR_MALE_FREQ_HET=0.0594752;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2802;AFR_FEMALE_AC=86;AFR_FEMALE_AF=0.030692;AFR_FEMALE_N_BI_GENOS=1401;AFR_FEMALE_N_HOMREF=1315;AFR_FEMALE_N_HET=86;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.938615;AFR_FEMALE_FREQ_HET=0.0613847;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=948;AMR_AC=28;AMR_AF=0.029536;AMR_N_BI_GENOS=474;AMR_N_HOMREF=446;AMR_N_HET=28;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.940928;AMR_FREQ_HET=0.0590717;AMR_FREQ_HOMALT=0;AMR_MALE_AN=466;AMR_MALE_AC=17;AMR_MALE_AF=0.036481;AMR_MALE_N_BI_GENOS=233;AMR_MALE_N_HOMREF=216;AMR_MALE_N_HET=17;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.927039;AMR_MALE_FREQ_HET=0.0729614;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=480;AMR_FEMALE_AC=11;AMR_FEMALE_AF=0.022917;AMR_FEMALE_N_BI_GENOS=240;AMR_FEMALE_N_HOMREF=229;AMR_FEMALE_N_HET=11;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.954167;AMR_FEMALE_FREQ_HET=0.0458333;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1600;EAS_AC=27;EAS_AF=0.016875;EAS_N_BI_GENOS=800;EAS_N_HOMREF=773;EAS_N_HET=27;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.96625;EAS_FREQ_HET=0.03375;EAS_FREQ_HOMALT=0;EAS_MALE_AN=904;EAS_MALE_AC=16;EAS_MALE_AF=0.017699;EAS_MALE_N_BI_GENOS=452;EAS_MALE_N_HOMREF=436;EAS_MALE_N_HET=16;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.964602;EAS_MALE_FREQ_HET=0.0353982;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=692;EAS_FEMALE_AC=11;EAS_FEMALE_AF=0.015896;EAS_FEMALE_N_BI_GENOS=346;EAS_FEMALE_N_HOMREF=335;EAS_FEMALE_N_HET=11;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.968208;EAS_FEMALE_FREQ_HET=0.0317919;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4538;EUR_AC=87;EUR_AF=0.019171;EUR_N_BI_GENOS=2269;EUR_N_HOMREF=2182;EUR_N_HET=87;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.961657;EUR_FREQ_HET=0.0383429;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2066;EUR_MALE_AC=40;EUR_MALE_AF=0.019361;EUR_MALE_N_BI_GENOS=1033;EUR_MALE_N_HOMREF=993;EUR_MALE_N_HET=40;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.961278;EUR_MALE_FREQ_HET=0.0387222;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2460;EUR_FEMALE_AC=47;EUR_FEMALE_AF=0.019106;EUR_FEMALE_N_BI_GENOS=1230;EUR_FEMALE_N_HOMREF=1183;EUR_FEMALE_N_HET=47;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.961789;EUR_FEMALE_FREQ_HET=0.0382114;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=126;OTH_AC=2;OTH_AF=0.015873;OTH_N_BI_GENOS=63;OTH_N_HOMREF=61;OTH_N_HET=2;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.968254;OTH_FREQ_HET=0.031746;OTH_FREQ_HOMALT=0;OTH_MALE_AN=56;OTH_MALE_AC=2;OTH_MALE_AF=0.035714;OTH_MALE_N_BI_GENOS=28;OTH_MALE_N_HOMREF=26;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.928571;OTH_MALE_FREQ_HET=0.0714286;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=70;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=35;OTH_FEMALE_N_HOMREF=35;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.030138 | |
| 339 1 376000 gnomAD-SV_v2.1_DEL_1_16 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=382450;SVTYPE=DEL;SVLEN=6450;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=14804;AC=484;AF=0.032694;N_BI_GENOS=7402;N_HOMREF=6918;N_HET=484;N_HOMALT=0;FREQ_HOMREF=0.934612;FREQ_HET=0.0653877;FREQ_HOMALT=0;MALE_AN=7488;MALE_AC=211;MALE_AF=0.028178;MALE_N_BI_GENOS=3744;MALE_N_HOMREF=3533;MALE_N_HET=211;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.943643;MALE_FREQ_HET=0.0563568;MALE_FREQ_HOMALT=0;FEMALE_AN=7286;FEMALE_AC=271;FEMALE_AF=0.037195;FEMALE_N_BI_GENOS=3643;FEMALE_N_HOMREF=3372;FEMALE_N_HET=271;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.925611;FEMALE_FREQ_HET=0.0743892;FEMALE_FREQ_HOMALT=0;AFR_AN=6544;AFR_AC=115;AFR_AF=0.017573;AFR_N_BI_GENOS=3272;AFR_N_HOMREF=3157;AFR_N_HET=115;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.964853;AFR_FREQ_HET=0.0351467;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3584;AFR_MALE_AC=56;AFR_MALE_AF=0.015625;AFR_MALE_N_BI_GENOS=1792;AFR_MALE_N_HOMREF=1736;AFR_MALE_N_HET=56;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.96875;AFR_MALE_FREQ_HET=0.03125;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2952;AFR_FEMALE_AC=59;AFR_FEMALE_AF=0.019986;AFR_FEMALE_N_BI_GENOS=1476;AFR_FEMALE_N_HOMREF=1417;AFR_FEMALE_N_HET=59;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.960027;AFR_FEMALE_FREQ_HET=0.0399729;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1038;AMR_AC=46;AMR_AF=0.044316;AMR_N_BI_GENOS=519;AMR_N_HOMREF=473;AMR_N_HET=46;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.911368;AMR_FREQ_HET=0.088632;AMR_FREQ_HOMALT=0;AMR_MALE_AN=502;AMR_MALE_AC=24;AMR_MALE_AF=0.047809;AMR_MALE_N_BI_GENOS=251;AMR_MALE_N_HOMREF=227;AMR_MALE_N_HET=24;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.904382;AMR_MALE_FREQ_HET=0.0956175;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=534;AMR_FEMALE_AC=22;AMR_FEMALE_AF=0.041199;AMR_FEMALE_N_BI_GENOS=267;AMR_FEMALE_N_HOMREF=245;AMR_FEMALE_N_HET=22;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.917603;AMR_FEMALE_FREQ_HET=0.082397;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1770;EAS_AC=63;EAS_AF=0.035593;EAS_N_BI_GENOS=885;EAS_N_HOMREF=822;EAS_N_HET=63;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.928814;EAS_FREQ_HET=0.0711864;EAS_FREQ_HOMALT=0;EAS_MALE_AN=994;EAS_MALE_AC=39;EAS_MALE_AF=0.039235;EAS_MALE_N_BI_GENOS=497;EAS_MALE_N_HOMREF=458;EAS_MALE_N_HET=39;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.921529;EAS_MALE_FREQ_HET=0.0784708;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=768;EAS_FEMALE_AC=23;EAS_FEMALE_AF=0.029948;EAS_FEMALE_N_BI_GENOS=384;EAS_FEMALE_N_HOMREF=361;EAS_FEMALE_N_HET=23;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.940104;EAS_FEMALE_FREQ_HET=0.0598958;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5314;EUR_AC=254;EUR_AF=0.047798;EUR_N_BI_GENOS=2657;EUR_N_HOMREF=2403;EUR_N_HET=254;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.904403;EUR_FREQ_HET=0.0955965;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2350;EUR_MALE_AC=90;EUR_MALE_AF=0.038298;EUR_MALE_N_BI_GENOS=1175;EUR_MALE_N_HOMREF=1085;EUR_MALE_N_HET=90;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.923404;EUR_MALE_FREQ_HET=0.0765957;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2952;EUR_FEMALE_AC=163;EUR_FEMALE_AF=0.055217;EUR_FEMALE_N_BI_GENOS=1476;EUR_FEMALE_N_HOMREF=1313;EUR_FEMALE_N_HET=163;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.889566;EUR_FEMALE_FREQ_HET=0.110434;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=138;OTH_AC=6;OTH_AF=0.043478;OTH_N_BI_GENOS=69;OTH_N_HOMREF=63;OTH_N_HET=6;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.913043;OTH_FREQ_HET=0.0869565;OTH_FREQ_HOMALT=0;OTH_MALE_AN=58;OTH_MALE_AC=2;OTH_MALE_AF=0.034483;OTH_MALE_N_BI_GENOS=29;OTH_MALE_N_HOMREF=27;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.931035;OTH_MALE_FREQ_HET=0.0689655;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=80;OTH_FEMALE_AC=4;OTH_FEMALE_AF=0.05;OTH_FEMALE_N_BI_GENOS=40;OTH_FEMALE_N_HOMREF=36;OTH_FEMALE_N_HET=4;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.9;OTH_FEMALE_FREQ_HET=0.1;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.047798 | |
| 340 1 380500 gnomAD-SV_v2.1_DEL_1_17 N <DEL> 999 LOW_CALL_RATE END=386800;SVTYPE=DEL;SVLEN=6300;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=8264;AC=48;AF=0.005808;N_BI_GENOS=4132;N_HOMREF=4084;N_HET=48;N_HOMALT=0;FREQ_HOMREF=0.988383;FREQ_HET=0.0116167;FREQ_HOMALT=0;MALE_AN=4270;MALE_AC=26;MALE_AF=0.006089;MALE_N_BI_GENOS=2135;MALE_N_HOMREF=2109;MALE_N_HET=26;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.987822;MALE_FREQ_HET=0.012178;MALE_FREQ_HOMALT=0;FEMALE_AN=3972;FEMALE_AC=20;FEMALE_AF=0.005035;FEMALE_N_BI_GENOS=1986;FEMALE_N_HOMREF=1966;FEMALE_N_HET=20;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.989929;FEMALE_FREQ_HET=0.0100705;FEMALE_FREQ_HOMALT=0;AFR_AN=3928;AFR_AC=16;AFR_AF=0.004073;AFR_N_BI_GENOS=1964;AFR_N_HOMREF=1948;AFR_N_HET=16;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.991853;AFR_FREQ_HET=0.00814664;AFR_FREQ_HOMALT=0;AFR_MALE_AN=2172;AFR_MALE_AC=11;AFR_MALE_AF=0.005064;AFR_MALE_N_BI_GENOS=1086;AFR_MALE_N_HOMREF=1075;AFR_MALE_N_HET=11;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.989871;AFR_MALE_FREQ_HET=0.0101289;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=1748;AFR_FEMALE_AC=5;AFR_FEMALE_AF=0.00286;AFR_FEMALE_N_BI_GENOS=874;AFR_FEMALE_N_HOMREF=869;AFR_FEMALE_N_HET=5;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.994279;AFR_FEMALE_FREQ_HET=0.00572082;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=770;AMR_AC=9;AMR_AF=0.011688;AMR_N_BI_GENOS=385;AMR_N_HOMREF=376;AMR_N_HET=9;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.976623;AMR_FREQ_HET=0.0233766;AMR_FREQ_HOMALT=0;AMR_MALE_AN=416;AMR_MALE_AC=5;AMR_MALE_AF=0.012019;AMR_MALE_N_BI_GENOS=208;AMR_MALE_N_HOMREF=203;AMR_MALE_N_HET=5;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.975962;AMR_MALE_FREQ_HET=0.0240385;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=350;AMR_FEMALE_AC=3;AMR_FEMALE_AF=0.008571;AMR_FEMALE_N_BI_GENOS=175;AMR_FEMALE_N_HOMREF=172;AMR_FEMALE_N_HET=3;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.982857;AMR_FEMALE_FREQ_HET=0.0171429;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=926;EAS_AC=6;EAS_AF=0.006479;EAS_N_BI_GENOS=463;EAS_N_HOMREF=457;EAS_N_HET=6;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.987041;EAS_FREQ_HET=0.012959;EAS_FREQ_HOMALT=0;EAS_MALE_AN=524;EAS_MALE_AC=4;EAS_MALE_AF=0.007634;EAS_MALE_N_BI_GENOS=262;EAS_MALE_N_HOMREF=258;EAS_MALE_N_HET=4;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.984733;EAS_MALE_FREQ_HET=0.0152672;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=398;EAS_FEMALE_AC=2;EAS_FEMALE_AF=0.005025;EAS_FEMALE_N_BI_GENOS=199;EAS_FEMALE_N_HOMREF=197;EAS_FEMALE_N_HET=2;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.98995;EAS_FEMALE_FREQ_HET=0.0100503;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=2568;EUR_AC=17;EUR_AF=0.00662;EUR_N_BI_GENOS=1284;EUR_N_HOMREF=1267;EUR_N_HET=17;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.98676;EUR_FREQ_HET=0.0132399;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1126;EUR_MALE_AC=6;EUR_MALE_AF=0.005329;EUR_MALE_N_BI_GENOS=563;EUR_MALE_N_HOMREF=557;EUR_MALE_N_HET=6;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.989343;EUR_MALE_FREQ_HET=0.0106572;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=1436;EUR_FEMALE_AC=10;EUR_FEMALE_AF=0.006964;EUR_FEMALE_N_BI_GENOS=718;EUR_FEMALE_N_HOMREF=708;EUR_FEMALE_N_HET=10;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.986072;EUR_FEMALE_FREQ_HET=0.0139276;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=72;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=36;OTH_N_HOMREF=36;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=32;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=16;OTH_MALE_N_HOMREF=16;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=40;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=20;OTH_FEMALE_N_HOMREF=20;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.011688 | |
| 341 1 383000 gnomAD-SV_v2.1_MCNV_1_5 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7>,<CN=8>,<CN=9>,<CN=10>,<CN=11> 999 MULTIALLELIC;PCRPLUS_ENRICHED END=388000;SVTYPE=MCNV;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=540;AC=0,48,414,19,36,11,6,3,2,1,0,0;AF=0,0.088889,0.766667,0.035185,0.066667,0.02037,0.011111,0.005556,0.003704,0.001852,0,0;MALE_AN=306;MALE_AC=0,30,229,11,23,5,3,3,1,1,0,0;MALE_AF=0,0.098039,0.748366,0.035948,0.075163,0.01634,0.009804,0.009804,0.003268,0.003268,0,0;FEMALE_AN=230;FEMALE_AC=0,17,183,8,12,6,3,0,1,0,0,0;FEMALE_AF=0,0.073913,0.795652,0.034783,0.052174,0.026087,0.013043,0,0.004348,0,0,0;AFR_AN=224;AFR_AC=0,21,170,7,19,5,1,1,0,0,0,0;AFR_AF=0,0.09375,0.758929,0.03125,0.084821,0.022321,0.004464,0.004464,0,0,0,0;AFR_MALE_AN=135;AFR_MALE_AC=0,11,102,4,13,3,1,1,0,0,0,0;AFR_MALE_AF=0,0.081481,0.755556,0.02963,0.096296,0.022222,0.007407,0.007407,0,0,0,0;AFR_FEMALE_AN=87;AFR_FEMALE_AC=0,9,68,3,5,2,0,0,0,0,0,0;AFR_FEMALE_AF=0,0.103448,0.781609,0.034483,0.057471,0.022989,0,0,0,0,0,0;AMR_AN=230;AMR_AC=0,23,189,6,8,1,2,1,0,0,0,0;AMR_AF=0,0.1,0.821739,0.026087,0.034783,0.004348,0.008696,0.004348,0,0,0,0;AMR_MALE_AN=130;AMR_MALE_AC=0,16,103,4,5,0,1,1,0,0,0,0;AMR_MALE_AF=0,0.123077,0.792308,0.030769,0.038462,0,0.007692,0.007692,0,0,0,0;AMR_FEMALE_AN=98;AMR_FEMALE_AC=0,7,84,2,3,1,1,0,0,0,0,0;AMR_FEMALE_AF=0,0.071429,0.857143,0.020408,0.030612,0.010204,0.010204,0,0,0,0,0;EAS_AN=0;EAS_AC=0,0,0,0,0,0,0,0,0,0,0,0;EAS_AF=0,0,0,0,0,0,0,0,0,0,0,0;EAS_MALE_AN=0;EAS_MALE_AC=0,0,0,0,0,0,0,0,0,0,0,0;EAS_MALE_AF=0,0,0,0,0,0,0,0,0,0,0,0;EAS_FEMALE_AN=0;EAS_FEMALE_AC=0,0,0,0,0,0,0,0,0,0,0,0;EAS_FEMALE_AF=0,0,0,0,0,0,0,0,0,0,0,0;EUR_AN=86;EUR_AC=0,4,55,6,9,5,3,1,2,1,0,0;EUR_AF=0,0.046512,0.639535,0.069767,0.104651,0.05814,0.034884,0.011628,0.023256,0.011628,0,0;EUR_MALE_AN=41;EUR_MALE_AC=0,3,24,3,5,2,1,1,1,1,0,0;EUR_MALE_AF=0,0.073171,0.585366,0.073171,0.121951,0.04878,0.02439,0.02439,0.02439,0.02439,0,0;EUR_FEMALE_AN=45;EUR_FEMALE_AC=0,1,31,3,4,3,2,0,1,0,0,0;EUR_FEMALE_AF=0,0.022222,0.688889,0.066667,0.088889,0.066667,0.044444,0,0.022222,0,0,0;OTH_AN=0;OTH_AC=0,0,0,0,0,0,0,0,0,0,0,0;OTH_AF=0,0,0,0,0,0,0,0,0,0,0,0;OTH_MALE_AN=0;OTH_MALE_AC=0,0,0,0,0,0,0,0,0,0,0,0;OTH_MALE_AF=0,0,0,0,0,0,0,0,0,0,0,0;OTH_FEMALE_AN=0;OTH_FEMALE_AC=0,0,0,0,0,0,0,0,0,0,0,0;OTH_FEMALE_AF=0,0,0,0,0,0,0,0,0,0,0,0 | |
| 342 1 384000 gnomAD-SV_v2.1_DEL_1_18 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=390000;SVTYPE=DEL;SVLEN=6000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=13120;AC=283;AF=0.02157;N_BI_GENOS=6560;N_HOMREF=6277;N_HET=283;N_HOMALT=0;FREQ_HOMREF=0.95686;FREQ_HET=0.0431402;FREQ_HOMALT=0;MALE_AN=6612;MALE_AC=168;MALE_AF=0.025408;MALE_N_BI_GENOS=3306;MALE_N_HOMREF=3138;MALE_N_HET=168;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.949183;MALE_FREQ_HET=0.0508167;MALE_FREQ_HOMALT=0;FEMALE_AN=6484;FEMALE_AC=114;FEMALE_AF=0.017582;FEMALE_N_BI_GENOS=3242;FEMALE_N_HOMREF=3128;FEMALE_N_HET=114;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.964837;FEMALE_FREQ_HET=0.0351635;FEMALE_FREQ_HOMALT=0;AFR_AN=5748;AFR_AC=112;AFR_AF=0.019485;AFR_N_BI_GENOS=2874;AFR_N_HOMREF=2762;AFR_N_HET=112;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.96103;AFR_FREQ_HET=0.0389701;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3148;AFR_MALE_AC=75;AFR_MALE_AF=0.023825;AFR_MALE_N_BI_GENOS=1574;AFR_MALE_N_HOMREF=1499;AFR_MALE_N_HET=75;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.952351;AFR_MALE_FREQ_HET=0.0476493;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2594;AFR_FEMALE_AC=37;AFR_FEMALE_AF=0.014264;AFR_FEMALE_N_BI_GENOS=1297;AFR_FEMALE_N_HOMREF=1260;AFR_FEMALE_N_HET=37;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.971473;AFR_FEMALE_FREQ_HET=0.0285274;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=924;AMR_AC=20;AMR_AF=0.021645;AMR_N_BI_GENOS=462;AMR_N_HOMREF=442;AMR_N_HET=20;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.95671;AMR_FREQ_HET=0.04329;AMR_FREQ_HOMALT=0;AMR_MALE_AN=402;AMR_MALE_AC=9;AMR_MALE_AF=0.022388;AMR_MALE_N_BI_GENOS=201;AMR_MALE_N_HOMREF=192;AMR_MALE_N_HET=9;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.955224;AMR_MALE_FREQ_HET=0.0447761;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=518;AMR_FEMALE_AC=11;AMR_FEMALE_AF=0.021236;AMR_FEMALE_N_BI_GENOS=259;AMR_FEMALE_N_HOMREF=248;AMR_FEMALE_N_HET=11;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.957529;AMR_FEMALE_FREQ_HET=0.042471;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1262;EAS_AC=102;EAS_AF=0.080824;EAS_N_BI_GENOS=631;EAS_N_HOMREF=529;EAS_N_HET=102;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.838352;EAS_FREQ_HET=0.161648;EAS_FREQ_HOMALT=0;EAS_MALE_AN=714;EAS_MALE_AC=62;EAS_MALE_AF=0.086835;EAS_MALE_N_BI_GENOS=357;EAS_MALE_N_HOMREF=295;EAS_MALE_N_HET=62;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.826331;EAS_MALE_FREQ_HET=0.173669;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=542;EAS_FEMALE_AC=39;EAS_FEMALE_AF=0.071956;EAS_FEMALE_N_BI_GENOS=271;EAS_FEMALE_N_HOMREF=232;EAS_FEMALE_N_HET=39;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.856089;EAS_FEMALE_FREQ_HET=0.143911;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5074;EUR_AC=47;EUR_AF=0.009263;EUR_N_BI_GENOS=2537;EUR_N_HOMREF=2490;EUR_N_HET=47;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.981474;EUR_FREQ_HET=0.0185258;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2306;EUR_MALE_AC=22;EUR_MALE_AF=0.00954;EUR_MALE_N_BI_GENOS=1153;EUR_MALE_N_HOMREF=1131;EUR_MALE_N_HET=22;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.980919;EUR_MALE_FREQ_HET=0.0190807;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2760;EUR_FEMALE_AC=25;EUR_FEMALE_AF=0.009058;EUR_FEMALE_N_BI_GENOS=1380;EUR_FEMALE_N_HOMREF=1355;EUR_FEMALE_N_HET=25;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.981884;EUR_FEMALE_FREQ_HET=0.0181159;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=112;OTH_AC=2;OTH_AF=0.017857;OTH_N_BI_GENOS=56;OTH_N_HOMREF=54;OTH_N_HET=2;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.964286;OTH_FREQ_HET=0.0357143;OTH_FREQ_HOMALT=0;OTH_MALE_AN=42;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=21;OTH_MALE_N_HOMREF=21;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=70;OTH_FEMALE_AC=2;OTH_FEMALE_AF=0.028571;OTH_FEMALE_N_BI_GENOS=35;OTH_FEMALE_N_HOMREF=33;OTH_FEMALE_N_HET=2;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.942857;OTH_FEMALE_FREQ_HET=0.0571429;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.080824 | |
| 343 1 395500 gnomAD-SV_v2.1_DUP_1_13 N <DUP> 50 LOW_CALL_RATE END=471184;SVTYPE=DUP;SVLEN=75684;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=14690;AC=2;AF=0.000136;N_BI_GENOS=7345;N_HOMREF=7343;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999728;FREQ_HET=0.000272294;FREQ_HOMALT=0;MALE_AN=7516;MALE_AC=1;MALE_AF=0.000133;MALE_N_BI_GENOS=3758;MALE_N_HOMREF=3757;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999734;MALE_FREQ_HET=0.000266099;MALE_FREQ_HOMALT=0;FEMALE_AN=7146;FEMALE_AC=1;FEMALE_AF=0.00014;FEMALE_N_BI_GENOS=3573;FEMALE_N_HOMREF=3572;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.99972;FEMALE_FREQ_HET=0.000279877;FEMALE_FREQ_HOMALT=0;AFR_AN=6938;AFR_AC=2;AFR_AF=0.000288;AFR_N_BI_GENOS=3469;AFR_N_HOMREF=3467;AFR_N_HET=2;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999423;AFR_FREQ_HET=0.000576535;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3804;AFR_MALE_AC=1;AFR_MALE_AF=0.000263;AFR_MALE_N_BI_GENOS=1902;AFR_MALE_N_HOMREF=1901;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999474;AFR_MALE_FREQ_HET=0.000525762;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3124;AFR_FEMALE_AC=1;AFR_FEMALE_AF=0.00032;AFR_FEMALE_N_BI_GENOS=1562;AFR_FEMALE_N_HOMREF=1561;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.99936;AFR_FEMALE_FREQ_HET=0.000640205;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1356;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=678;AMR_N_HOMREF=678;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=682;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=341;AMR_MALE_N_HOMREF=341;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=668;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=334;AMR_FEMALE_N_HOMREF=334;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1410;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=705;EAS_N_HOMREF=705;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=810;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=405;EAS_MALE_N_HOMREF=405;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=596;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=298;EAS_FEMALE_N_HOMREF=298;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4870;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=2435;EUR_N_HOMREF=2435;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2166;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1083;EUR_MALE_N_HOMREF=1083;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2696;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1348;EUR_FEMALE_N_HOMREF=1348;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=116;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=58;OTH_N_HOMREF=58;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=54;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=27;OTH_MALE_N_HOMREF=27;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=62;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=31;OTH_FEMALE_N_HOMREF=31;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000288 | |
| 344 1 406350 gnomAD-SV_v2.1_DEL_1_19 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=415250;SVTYPE=DEL;SVLEN=8900;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=16184;AC=1536;AF=0.094909;N_BI_GENOS=8092;N_HOMREF=6556;N_HET=1536;N_HOMALT=0;FREQ_HOMREF=0.810183;FREQ_HET=0.189817;FREQ_HOMALT=0;MALE_AN=8256;MALE_AC=762;MALE_AF=0.092297;MALE_N_BI_GENOS=4128;MALE_N_HOMREF=3366;MALE_N_HET=762;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.815407;MALE_FREQ_HET=0.184593;MALE_FREQ_HOMALT=0;FEMALE_AN=7896;FEMALE_AC=767;FEMALE_AF=0.097138;FEMALE_N_BI_GENOS=3948;FEMALE_N_HOMREF=3181;FEMALE_N_HET=767;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.805724;FEMALE_FREQ_HET=0.194276;FEMALE_FREQ_HOMALT=0;AFR_AN=7726;AFR_AC=454;AFR_AF=0.058763;AFR_N_BI_GENOS=3863;AFR_N_HOMREF=3409;AFR_N_HET=454;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.882475;AFR_FREQ_HET=0.117525;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4238;AFR_MALE_AC=256;AFR_MALE_AF=0.060406;AFR_MALE_N_BI_GENOS=2119;AFR_MALE_N_HOMREF=1863;AFR_MALE_N_HET=256;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.879188;AFR_MALE_FREQ_HET=0.120812;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3482;AFR_FEMALE_AC=197;AFR_FEMALE_AF=0.056577;AFR_FEMALE_N_BI_GENOS=1741;AFR_FEMALE_N_HOMREF=1544;AFR_FEMALE_N_HET=197;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.886847;AFR_FEMALE_FREQ_HET=0.113153;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1116;AMR_AC=97;AMR_AF=0.086918;AMR_N_BI_GENOS=558;AMR_N_HOMREF=461;AMR_N_HET=97;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.826165;AMR_FREQ_HET=0.173835;AMR_FREQ_HOMALT=0;AMR_MALE_AN=524;AMR_MALE_AC=43;AMR_MALE_AF=0.082061;AMR_MALE_N_BI_GENOS=262;AMR_MALE_N_HOMREF=219;AMR_MALE_N_HET=43;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.835878;AMR_MALE_FREQ_HET=0.164122;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=588;AMR_FEMALE_AC=54;AMR_FEMALE_AF=0.091837;AMR_FEMALE_N_BI_GENOS=294;AMR_FEMALE_N_HOMREF=240;AMR_FEMALE_N_HET=54;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.816327;AMR_FEMALE_FREQ_HET=0.183673;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1688;EAS_AC=400;EAS_AF=0.236967;EAS_N_BI_GENOS=844;EAS_N_HOMREF=444;EAS_N_HET=400;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.526066;EAS_FREQ_HET=0.473934;EAS_FREQ_HOMALT=0;EAS_MALE_AN=978;EAS_MALE_AC=231;EAS_MALE_AF=0.236196;EAS_MALE_N_BI_GENOS=489;EAS_MALE_N_HOMREF=258;EAS_MALE_N_HET=231;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.527607;EAS_MALE_FREQ_HET=0.472393;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=704;EAS_FEMALE_AC=166;EAS_FEMALE_AF=0.235795;EAS_FEMALE_N_BI_GENOS=352;EAS_FEMALE_N_HOMREF=186;EAS_FEMALE_N_HET=166;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.528409;EAS_FEMALE_FREQ_HET=0.471591;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5508;EUR_AC=573;EUR_AF=0.104031;EUR_N_BI_GENOS=2754;EUR_N_HOMREF=2181;EUR_N_HET=573;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.791939;EUR_FREQ_HET=0.208061;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2454;EUR_MALE_AC=229;EUR_MALE_AF=0.093317;EUR_MALE_N_BI_GENOS=1227;EUR_MALE_N_HOMREF=998;EUR_MALE_N_HET=229;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.813366;EUR_MALE_FREQ_HET=0.186634;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3038;EUR_FEMALE_AC=341;EUR_FEMALE_AF=0.112245;EUR_FEMALE_N_BI_GENOS=1519;EUR_FEMALE_N_HOMREF=1178;EUR_FEMALE_N_HET=341;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.77551;EUR_FEMALE_FREQ_HET=0.22449;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=146;OTH_AC=12;OTH_AF=0.082192;OTH_N_BI_GENOS=73;OTH_N_HOMREF=61;OTH_N_HET=12;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.835616;OTH_FREQ_HET=0.164384;OTH_FREQ_HOMALT=0;OTH_MALE_AN=62;OTH_MALE_AC=3;OTH_MALE_AF=0.048387;OTH_MALE_N_BI_GENOS=31;OTH_MALE_N_HOMREF=28;OTH_MALE_N_HET=3;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.903226;OTH_MALE_FREQ_HET=0.0967742;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=84;OTH_FEMALE_AC=9;OTH_FEMALE_AF=0.107143;OTH_FEMALE_N_BI_GENOS=42;OTH_FEMALE_N_HOMREF=33;OTH_FEMALE_N_HET=9;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.785714;OTH_FEMALE_FREQ_HET=0.214286;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.236967 | |
| 345 1 413000 gnomAD-SV_v2.1_DUP_1_14 N <DUP> 999 LOW_CALL_RATE END=461500;SVTYPE=DUP;SVLEN=48500;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=17274;AC=40;AF=0.002316;N_BI_GENOS=8637;N_HOMREF=8597;N_HET=40;N_HOMALT=0;FREQ_HOMREF=0.995369;FREQ_HET=0.00463124;FREQ_HOMALT=0;MALE_AN=8862;MALE_AC=18;MALE_AF=0.002031;MALE_N_BI_GENOS=4431;MALE_N_HOMREF=4413;MALE_N_HET=18;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.995938;MALE_FREQ_HET=0.00406229;MALE_FREQ_HOMALT=0;FEMALE_AN=8376;FEMALE_AC=22;FEMALE_AF=0.002627;FEMALE_N_BI_GENOS=4188;FEMALE_N_HOMREF=4166;FEMALE_N_HET=22;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.994747;FEMALE_FREQ_HET=0.0052531;FEMALE_FREQ_HOMALT=0;AFR_AN=8110;AFR_AC=31;AFR_AF=0.003822;AFR_N_BI_GENOS=4055;AFR_N_HOMREF=4024;AFR_N_HET=31;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.992355;AFR_FREQ_HET=0.00764488;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4472;AFR_MALE_AC=13;AFR_MALE_AF=0.002907;AFR_MALE_N_BI_GENOS=2236;AFR_MALE_N_HOMREF=2223;AFR_MALE_N_HET=13;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.994186;AFR_MALE_FREQ_HET=0.00581395;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3628;AFR_FEMALE_AC=18;AFR_FEMALE_AF=0.004961;AFR_FEMALE_N_BI_GENOS=1814;AFR_FEMALE_N_HOMREF=1796;AFR_FEMALE_N_HET=18;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.990077;AFR_FEMALE_FREQ_HET=0.00992282;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1578;AMR_AC=7;AMR_AF=0.004436;AMR_N_BI_GENOS=789;AMR_N_HOMREF=782;AMR_N_HET=7;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.991128;AMR_FREQ_HET=0.00887199;AMR_FREQ_HOMALT=0;AMR_MALE_AN=772;AMR_MALE_AC=4;AMR_MALE_AF=0.005181;AMR_MALE_N_BI_GENOS=386;AMR_MALE_N_HOMREF=382;AMR_MALE_N_HET=4;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.989637;AMR_MALE_FREQ_HET=0.0103627;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=800;AMR_FEMALE_AC=3;AMR_FEMALE_AF=0.00375;AMR_FEMALE_N_BI_GENOS=400;AMR_FEMALE_N_HOMREF=397;AMR_FEMALE_N_HET=3;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.9925;AMR_FEMALE_FREQ_HET=0.0075;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1766;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=883;EAS_N_HOMREF=883;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1014;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=507;EAS_MALE_N_HOMREF=507;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=744;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=372;EAS_FEMALE_N_HOMREF=372;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5672;EUR_AC=2;EUR_AF=0.000353;EUR_N_BI_GENOS=2836;EUR_N_HOMREF=2834;EUR_N_HET=2;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999295;EUR_FREQ_HET=0.000705219;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2542;EUR_MALE_AC=1;EUR_MALE_AF=0.000393;EUR_MALE_N_BI_GENOS=1271;EUR_MALE_N_HOMREF=1270;EUR_MALE_N_HET=1;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.999213;EUR_MALE_FREQ_HET=0.000786782;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3118;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000321;EUR_FEMALE_N_BI_GENOS=1559;EUR_FEMALE_N_HOMREF=1558;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999359;EUR_FEMALE_FREQ_HET=0.000641437;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=148;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=74;OTH_N_HOMREF=74;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=62;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=31;OTH_MALE_N_HOMREF=31;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=86;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=43;OTH_FEMALE_N_HOMREF=43;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.004436 | |
| 346 1 434000 gnomAD-SV_v2.1_DEL_1_20 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=441000;SVTYPE=DEL;SVLEN=7000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=13978;AC=1560;AF=0.111604;N_BI_GENOS=6989;N_HOMREF=5429;N_HET=1560;N_HOMALT=0;FREQ_HOMREF=0.776792;FREQ_HET=0.223208;FREQ_HOMALT=0;MALE_AN=7072;MALE_AC=753;MALE_AF=0.106476;MALE_N_BI_GENOS=3536;MALE_N_HOMREF=2783;MALE_N_HET=753;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.787048;MALE_FREQ_HET=0.212952;MALE_FREQ_HOMALT=0;FEMALE_AN=6880;FEMALE_AC=804;FEMALE_AF=0.11686;FEMALE_N_BI_GENOS=3440;FEMALE_N_HOMREF=2636;FEMALE_N_HET=804;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.766279;FEMALE_FREQ_HET=0.233721;FEMALE_FREQ_HOMALT=0;AFR_AN=6280;AFR_AC=612;AFR_AF=0.097452;AFR_N_BI_GENOS=3140;AFR_N_HOMREF=2528;AFR_N_HET=612;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.805096;AFR_FREQ_HET=0.194904;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3418;AFR_MALE_AC=328;AFR_MALE_AF=0.095963;AFR_MALE_N_BI_GENOS=1709;AFR_MALE_N_HOMREF=1381;AFR_MALE_N_HET=328;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.808075;AFR_MALE_FREQ_HET=0.191925;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2856;AFR_FEMALE_AC=283;AFR_FEMALE_AF=0.09909;AFR_FEMALE_N_BI_GENOS=1428;AFR_FEMALE_N_HOMREF=1145;AFR_FEMALE_N_HET=283;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.801821;AFR_FEMALE_FREQ_HET=0.198179;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1082;AMR_AC=88;AMR_AF=0.081331;AMR_N_BI_GENOS=541;AMR_N_HOMREF=453;AMR_N_HET=88;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.837338;AMR_FREQ_HET=0.162662;AMR_FREQ_HOMALT=0;AMR_MALE_AN=504;AMR_MALE_AC=38;AMR_MALE_AF=0.075397;AMR_MALE_N_BI_GENOS=252;AMR_MALE_N_HOMREF=214;AMR_MALE_N_HET=38;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.849206;AMR_MALE_FREQ_HET=0.150794;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=574;AMR_FEMALE_AC=50;AMR_FEMALE_AF=0.087108;AMR_FEMALE_N_BI_GENOS=287;AMR_FEMALE_N_HOMREF=237;AMR_FEMALE_N_HET=50;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.825784;AMR_FEMALE_FREQ_HET=0.174216;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1600;EAS_AC=245;EAS_AF=0.153125;EAS_N_BI_GENOS=800;EAS_N_HOMREF=555;EAS_N_HET=245;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.69375;EAS_FREQ_HET=0.30625;EAS_FREQ_HOMALT=0;EAS_MALE_AN=920;EAS_MALE_AC=144;EAS_MALE_AF=0.156522;EAS_MALE_N_BI_GENOS=460;EAS_MALE_N_HOMREF=316;EAS_MALE_N_HET=144;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.686957;EAS_MALE_FREQ_HET=0.313043;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=672;EAS_FEMALE_AC=100;EAS_FEMALE_AF=0.14881;EAS_FEMALE_N_BI_GENOS=336;EAS_FEMALE_N_HOMREF=236;EAS_FEMALE_N_HET=100;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.702381;EAS_FEMALE_FREQ_HET=0.297619;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4892;EUR_AC=598;EUR_AF=0.12224;EUR_N_BI_GENOS=2446;EUR_N_HOMREF=1848;EUR_N_HET=598;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.755519;EUR_FREQ_HET=0.244481;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2176;EUR_MALE_AC=237;EUR_MALE_AF=0.108915;EUR_MALE_N_BI_GENOS=1088;EUR_MALE_N_HOMREF=851;EUR_MALE_N_HET=237;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.782169;EUR_MALE_FREQ_HET=0.217831;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2708;EUR_FEMALE_AC=360;EUR_FEMALE_AF=0.132939;EUR_FEMALE_N_BI_GENOS=1354;EUR_FEMALE_N_HOMREF=994;EUR_FEMALE_N_HET=360;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.734121;EUR_FEMALE_FREQ_HET=0.265879;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=124;OTH_AC=17;OTH_AF=0.137097;OTH_N_BI_GENOS=62;OTH_N_HOMREF=45;OTH_N_HET=17;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.725806;OTH_FREQ_HET=0.274194;OTH_FREQ_HOMALT=0;OTH_MALE_AN=54;OTH_MALE_AC=6;OTH_MALE_AF=0.111111;OTH_MALE_N_BI_GENOS=27;OTH_MALE_N_HOMREF=21;OTH_MALE_N_HET=6;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.777778;OTH_MALE_FREQ_HET=0.222222;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=70;OTH_FEMALE_AC=11;OTH_FEMALE_AF=0.157143;OTH_FEMALE_N_BI_GENOS=35;OTH_FEMALE_N_HOMREF=24;OTH_FEMALE_N_HET=11;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.685714;OTH_FEMALE_FREQ_HET=0.314286;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.153125 | |
| 347 1 440000 gnomAD-SV_v2.1_DUP_1_15 N <DUP> 125 LOW_CALL_RATE END=471050;SVTYPE=DUP;SVLEN=31050;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=16734;AC=13;AF=0.000777;N_BI_GENOS=8367;N_HOMREF=8354;N_HET=13;N_HOMALT=0;FREQ_HOMREF=0.998446;FREQ_HET=0.00155372;FREQ_HOMALT=0;MALE_AN=8558;MALE_AC=5;MALE_AF=0.000584;MALE_N_BI_GENOS=4279;MALE_N_HOMREF=4274;MALE_N_HET=5;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.998832;MALE_FREQ_HET=0.0011685;MALE_FREQ_HOMALT=0;FEMALE_AN=8146;FEMALE_AC=8;FEMALE_AF=0.000982;FEMALE_N_BI_GENOS=4073;FEMALE_N_HOMREF=4065;FEMALE_N_HET=8;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.998036;FEMALE_FREQ_HET=0.00196415;FEMALE_FREQ_HOMALT=0;AFR_AN=7508;AFR_AC=9;AFR_AF=0.001199;AFR_N_BI_GENOS=3754;AFR_N_HOMREF=3745;AFR_N_HET=9;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.997603;AFR_FREQ_HET=0.00239744;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4118;AFR_MALE_AC=3;AFR_MALE_AF=0.000729;AFR_MALE_N_BI_GENOS=2059;AFR_MALE_N_HOMREF=2056;AFR_MALE_N_HET=3;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.998543;AFR_MALE_FREQ_HET=0.00145702;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3380;AFR_FEMALE_AC=6;AFR_FEMALE_AF=0.001775;AFR_FEMALE_N_BI_GENOS=1690;AFR_FEMALE_N_HOMREF=1684;AFR_FEMALE_N_HET=6;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.99645;AFR_FEMALE_FREQ_HET=0.0035503;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1516;AMR_AC=3;AMR_AF=0.001979;AMR_N_BI_GENOS=758;AMR_N_HOMREF=755;AMR_N_HET=3;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.996042;AMR_FREQ_HET=0.00395778;AMR_FREQ_HOMALT=0;AMR_MALE_AN=746;AMR_MALE_AC=2;AMR_MALE_AF=0.002681;AMR_MALE_N_BI_GENOS=373;AMR_MALE_N_HOMREF=371;AMR_MALE_N_HET=2;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.994638;AMR_MALE_FREQ_HET=0.00536193;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=766;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.001305;AMR_FEMALE_N_BI_GENOS=383;AMR_FEMALE_N_HOMREF=382;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997389;AMR_FEMALE_FREQ_HET=0.00261097;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1676;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=838;EAS_N_HOMREF=838;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=956;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=478;EAS_MALE_N_HOMREF=478;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=718;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=359;EAS_FEMALE_N_HOMREF=359;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5890;EUR_AC=1;EUR_AF=0.00017;EUR_N_BI_GENOS=2945;EUR_N_HOMREF=2944;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.99966;EUR_FREQ_HET=0.000339559;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2676;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1338;EUR_MALE_N_HOMREF=1338;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3200;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000313;EUR_FEMALE_N_BI_GENOS=1600;EUR_FEMALE_N_HOMREF=1599;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999375;EUR_FEMALE_FREQ_HET=0.000625;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=144;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=72;OTH_N_HOMREF=72;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=62;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=31;OTH_MALE_N_HOMREF=31;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=82;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=41;OTH_FEMALE_N_HOMREF=41;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.001979 | |
| 348 1 446000 gnomAD-SV_v2.1_DEL_1_21 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=461000;SVTYPE=DEL;SVLEN=15000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=14852;AC=695;AF=0.046795;N_BI_GENOS=7426;N_HOMREF=6731;N_HET=695;N_HOMALT=0;FREQ_HOMREF=0.90641;FREQ_HET=0.0935901;FREQ_HOMALT=0;MALE_AN=7510;MALE_AC=352;MALE_AF=0.046871;MALE_N_BI_GENOS=3755;MALE_N_HOMREF=3403;MALE_N_HET=352;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.906258;MALE_FREQ_HET=0.0937417;MALE_FREQ_HOMALT=0;FEMALE_AN=7312;FEMALE_AC=341;FEMALE_AF=0.046636;FEMALE_N_BI_GENOS=3656;FEMALE_N_HOMREF=3315;FEMALE_N_HET=341;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.906729;FEMALE_FREQ_HET=0.0932713;FEMALE_FREQ_HOMALT=0;AFR_AN=6492;AFR_AC=287;AFR_AF=0.044208;AFR_N_BI_GENOS=3246;AFR_N_HOMREF=2959;AFR_N_HET=287;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.911583;AFR_FREQ_HET=0.0884165;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3538;AFR_MALE_AC=152;AFR_MALE_AF=0.042962;AFR_MALE_N_BI_GENOS=1769;AFR_MALE_N_HOMREF=1617;AFR_MALE_N_HET=152;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.914076;AFR_MALE_FREQ_HET=0.0859243;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2946;AFR_FEMALE_AC=134;AFR_FEMALE_AF=0.045485;AFR_FEMALE_N_BI_GENOS=1473;AFR_FEMALE_N_HOMREF=1339;AFR_FEMALE_N_HET=134;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.909029;AFR_FEMALE_FREQ_HET=0.0909708;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1180;AMR_AC=29;AMR_AF=0.024576;AMR_N_BI_GENOS=590;AMR_N_HOMREF=561;AMR_N_HET=29;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.950847;AMR_FREQ_HET=0.0491525;AMR_FREQ_HOMALT=0;AMR_MALE_AN=554;AMR_MALE_AC=15;AMR_MALE_AF=0.027076;AMR_MALE_N_BI_GENOS=277;AMR_MALE_N_HOMREF=262;AMR_MALE_N_HET=15;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.945848;AMR_MALE_FREQ_HET=0.0541516;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=622;AMR_FEMALE_AC=14;AMR_FEMALE_AF=0.022508;AMR_FEMALE_N_BI_GENOS=311;AMR_FEMALE_N_HOMREF=297;AMR_FEMALE_N_HET=14;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.954984;AMR_FEMALE_FREQ_HET=0.0450161;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1576;EAS_AC=161;EAS_AF=0.102157;EAS_N_BI_GENOS=788;EAS_N_HOMREF=627;EAS_N_HET=161;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.795685;EAS_FREQ_HET=0.204315;EAS_FREQ_HOMALT=0;EAS_MALE_AN=902;EAS_MALE_AC=92;EAS_MALE_AF=0.101996;EAS_MALE_N_BI_GENOS=451;EAS_MALE_N_HOMREF=359;EAS_MALE_N_HET=92;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.796009;EAS_MALE_FREQ_HET=0.203991;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=670;EAS_FEMALE_AC=68;EAS_FEMALE_AF=0.101493;EAS_FEMALE_N_BI_GENOS=335;EAS_FEMALE_N_HOMREF=267;EAS_FEMALE_N_HET=68;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.797015;EAS_FEMALE_FREQ_HET=0.202985;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5478;EUR_AC=213;EUR_AF=0.038883;EUR_N_BI_GENOS=2739;EUR_N_HOMREF=2526;EUR_N_HET=213;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.922234;EUR_FREQ_HET=0.0777656;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2462;EUR_MALE_AC=90;EUR_MALE_AF=0.036556;EUR_MALE_N_BI_GENOS=1231;EUR_MALE_N_HOMREF=1141;EUR_MALE_N_HET=90;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.926889;EUR_MALE_FREQ_HET=0.0731113;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3002;EUR_FEMALE_AC=123;EUR_FEMALE_AF=0.040973;EUR_FEMALE_N_BI_GENOS=1501;EUR_FEMALE_N_HOMREF=1378;EUR_FEMALE_N_HET=123;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.918055;EUR_FEMALE_FREQ_HET=0.0819454;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=126;OTH_AC=5;OTH_AF=0.039683;OTH_N_BI_GENOS=63;OTH_N_HOMREF=58;OTH_N_HET=5;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.920635;OTH_FREQ_HET=0.0793651;OTH_FREQ_HOMALT=0;OTH_MALE_AN=54;OTH_MALE_AC=3;OTH_MALE_AF=0.055556;OTH_MALE_N_BI_GENOS=27;OTH_MALE_N_HOMREF=24;OTH_MALE_N_HET=3;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.888889;OTH_MALE_FREQ_HET=0.111111;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=72;OTH_FEMALE_AC=2;OTH_FEMALE_AF=0.027778;OTH_FEMALE_N_BI_GENOS=36;OTH_FEMALE_N_HOMREF=34;OTH_FEMALE_N_HET=2;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.944444;OTH_FEMALE_FREQ_HET=0.0555556;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.102157 | |
| 349 1 456000 gnomAD-SV_v2.1_DEL_1_22 N <DEL> 999 LOW_CALL_RATE END=468000;SVTYPE=DEL;SVLEN=12000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=16994;AC=472;AF=0.027775;N_BI_GENOS=8497;N_HOMREF=8025;N_HET=472;N_HOMALT=0;FREQ_HOMREF=0.944451;FREQ_HET=0.055549;FREQ_HOMALT=0;MALE_AN=8656;MALE_AC=242;MALE_AF=0.027957;MALE_N_BI_GENOS=4328;MALE_N_HOMREF=4086;MALE_N_HET=242;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.944085;MALE_FREQ_HET=0.055915;MALE_FREQ_HOMALT=0;FEMALE_AN=8306;FEMALE_AC=229;FEMALE_AF=0.02757;FEMALE_N_BI_GENOS=4153;FEMALE_N_HOMREF=3924;FEMALE_N_HET=229;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.944859;FEMALE_FREQ_HET=0.0551409;FEMALE_FREQ_HOMALT=0;AFR_AN=7500;AFR_AC=161;AFR_AF=0.021467;AFR_N_BI_GENOS=3750;AFR_N_HOMREF=3589;AFR_N_HET=161;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.957067;AFR_FREQ_HET=0.0429333;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4118;AFR_MALE_AC=86;AFR_MALE_AF=0.020884;AFR_MALE_N_BI_GENOS=2059;AFR_MALE_N_HOMREF=1973;AFR_MALE_N_HET=86;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.958232;AFR_MALE_FREQ_HET=0.0417678;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3372;AFR_FEMALE_AC=74;AFR_FEMALE_AF=0.021945;AFR_FEMALE_N_BI_GENOS=1686;AFR_FEMALE_N_HOMREF=1612;AFR_FEMALE_N_HET=74;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.956109;AFR_FEMALE_FREQ_HET=0.0438909;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1522;AMR_AC=35;AMR_AF=0.022996;AMR_N_BI_GENOS=761;AMR_N_HOMREF=726;AMR_N_HET=35;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.954008;AMR_FREQ_HET=0.0459921;AMR_FREQ_HOMALT=0;AMR_MALE_AN=764;AMR_MALE_AC=17;AMR_MALE_AF=0.022251;AMR_MALE_N_BI_GENOS=382;AMR_MALE_N_HOMREF=365;AMR_MALE_N_HET=17;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.955497;AMR_MALE_FREQ_HET=0.0445026;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=754;AMR_FEMALE_AC=18;AMR_FEMALE_AF=0.023873;AMR_FEMALE_N_BI_GENOS=377;AMR_FEMALE_N_HOMREF=359;AMR_FEMALE_N_HET=18;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.952255;AMR_FEMALE_FREQ_HET=0.0477454;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1734;EAS_AC=102;EAS_AF=0.058824;EAS_N_BI_GENOS=867;EAS_N_HOMREF=765;EAS_N_HET=102;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.882353;EAS_FREQ_HET=0.117647;EAS_FREQ_HOMALT=0;EAS_MALE_AN=978;EAS_MALE_AC=59;EAS_MALE_AF=0.060327;EAS_MALE_N_BI_GENOS=489;EAS_MALE_N_HOMREF=430;EAS_MALE_N_HET=59;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.879346;EAS_MALE_FREQ_HET=0.120654;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=752;EAS_FEMALE_AC=43;EAS_FEMALE_AF=0.057181;EAS_FEMALE_N_BI_GENOS=376;EAS_FEMALE_N_HOMREF=333;EAS_FEMALE_N_HET=43;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.885638;EAS_FEMALE_FREQ_HET=0.114362;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6094;EUR_AC=169;EUR_AF=0.027732;EUR_N_BI_GENOS=3047;EUR_N_HOMREF=2878;EUR_N_HET=169;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.944536;EUR_FREQ_HET=0.0554644;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2738;EUR_MALE_AC=77;EUR_MALE_AF=0.028123;EUR_MALE_N_BI_GENOS=1369;EUR_MALE_N_HOMREF=1292;EUR_MALE_N_HET=77;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.943755;EUR_MALE_FREQ_HET=0.0562454;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3342;EUR_FEMALE_AC=92;EUR_FEMALE_AF=0.027528;EUR_FEMALE_N_BI_GENOS=1671;EUR_FEMALE_N_HOMREF=1579;EUR_FEMALE_N_HET=92;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.944943;EUR_FEMALE_FREQ_HET=0.0550569;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=144;OTH_AC=5;OTH_AF=0.034722;OTH_N_BI_GENOS=72;OTH_N_HOMREF=67;OTH_N_HET=5;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.930556;OTH_FREQ_HET=0.0694444;OTH_FREQ_HOMALT=0;OTH_MALE_AN=58;OTH_MALE_AC=3;OTH_MALE_AF=0.051724;OTH_MALE_N_BI_GENOS=29;OTH_MALE_N_HOMREF=26;OTH_MALE_N_HET=3;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.896552;OTH_MALE_FREQ_HET=0.103448;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=86;OTH_FEMALE_AC=2;OTH_FEMALE_AF=0.023256;OTH_FEMALE_N_BI_GENOS=43;OTH_FEMALE_N_HOMREF=41;OTH_FEMALE_N_HET=2;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.953488;OTH_FEMALE_FREQ_HET=0.0465116;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.058824 | |
| 350 1 459500 gnomAD-SV_v2.1_DUP_1_16 N <DUP> 139 LOW_CALL_RATE END=467000;SVTYPE=DUP;SVLEN=7500;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=17588;AC=26;AF=0.001478;N_BI_GENOS=8794;N_HOMREF=8768;N_HET=26;N_HOMALT=0;FREQ_HOMREF=0.997043;FREQ_HET=0.00295656;FREQ_HOMALT=0;MALE_AN=8910;MALE_AC=13;MALE_AF=0.001459;MALE_N_BI_GENOS=4455;MALE_N_HOMREF=4442;MALE_N_HET=13;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.997082;MALE_FREQ_HET=0.00291807;MALE_FREQ_HOMALT=0;FEMALE_AN=8644;FEMALE_AC=13;FEMALE_AF=0.001504;FEMALE_N_BI_GENOS=4322;FEMALE_N_HOMREF=4309;FEMALE_N_HET=13;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.996992;FEMALE_FREQ_HET=0.00300787;FEMALE_FREQ_HOMALT=0;AFR_AN=7688;AFR_AC=25;AFR_AF=0.003252;AFR_N_BI_GENOS=3844;AFR_N_HOMREF=3819;AFR_N_HET=25;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.993496;AFR_FREQ_HET=0.00650364;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4194;AFR_MALE_AC=13;AFR_MALE_AF=0.0031;AFR_MALE_N_BI_GENOS=2097;AFR_MALE_N_HOMREF=2084;AFR_MALE_N_HET=13;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.993801;AFR_MALE_FREQ_HET=0.00619933;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3482;AFR_FEMALE_AC=12;AFR_FEMALE_AF=0.003446;AFR_FEMALE_N_BI_GENOS=1741;AFR_FEMALE_N_HOMREF=1729;AFR_FEMALE_N_HET=12;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.993107;AFR_FEMALE_FREQ_HET=0.00689259;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1490;AMR_AC=1;AMR_AF=0.000671;AMR_N_BI_GENOS=745;AMR_N_HOMREF=744;AMR_N_HET=1;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.998658;AMR_FREQ_HET=0.00134228;AMR_FREQ_HOMALT=0;AMR_MALE_AN=740;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=370;AMR_MALE_N_HOMREF=370;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=746;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.00134;AMR_FEMALE_N_BI_GENOS=373;AMR_FEMALE_N_HOMREF=372;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997319;AMR_FEMALE_FREQ_HET=0.00268097;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1896;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=948;EAS_N_HOMREF=948;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1076;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=538;EAS_MALE_N_HOMREF=538;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=816;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=408;EAS_FEMALE_N_HOMREF=408;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6356;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3178;EUR_N_HOMREF=3178;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2838;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1419;EUR_MALE_N_HOMREF=1419;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3504;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1752;EUR_FEMALE_N_HOMREF=1752;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=158;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=79;OTH_N_HOMREF=79;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=62;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=31;OTH_MALE_N_HOMREF=31;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=96;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=48;OTH_FEMALE_N_HOMREF=48;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.003252 | |
| 351 1 461000 gnomAD-SV_v2.1_DEL_1_23 N <DEL> 999 LOW_CALL_RATE END=466000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=17414;AC=349;AF=0.020041;N_BI_GENOS=8707;N_HOMREF=8358;N_HET=349;N_HOMALT=0;FREQ_HOMREF=0.959917;FREQ_HET=0.0400827;FREQ_HOMALT=0;MALE_AN=8832;MALE_AC=190;MALE_AF=0.021513;MALE_N_BI_GENOS=4416;MALE_N_HOMREF=4226;MALE_N_HET=190;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.956975;MALE_FREQ_HET=0.0430254;MALE_FREQ_HOMALT=0;FEMALE_AN=8544;FEMALE_AC=158;FEMALE_AF=0.018493;FEMALE_N_BI_GENOS=4272;FEMALE_N_HOMREF=4114;FEMALE_N_HET=158;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.963015;FEMALE_FREQ_HET=0.036985;FEMALE_FREQ_HOMALT=0;AFR_AN=7646;AFR_AC=91;AFR_AF=0.011902;AFR_N_BI_GENOS=3823;AFR_N_HOMREF=3732;AFR_N_HET=91;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.976197;AFR_FREQ_HET=0.0238033;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4168;AFR_MALE_AC=52;AFR_MALE_AF=0.012476;AFR_MALE_N_BI_GENOS=2084;AFR_MALE_N_HOMREF=2032;AFR_MALE_N_HET=52;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.975048;AFR_MALE_FREQ_HET=0.024952;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3466;AFR_FEMALE_AC=38;AFR_FEMALE_AF=0.010964;AFR_FEMALE_N_BI_GENOS=1733;AFR_FEMALE_N_HOMREF=1695;AFR_FEMALE_N_HET=38;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.978073;AFR_FEMALE_FREQ_HET=0.0219273;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1510;AMR_AC=35;AMR_AF=0.023179;AMR_N_BI_GENOS=755;AMR_N_HOMREF=720;AMR_N_HET=35;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.953642;AMR_FREQ_HET=0.0463576;AMR_FREQ_HOMALT=0;AMR_MALE_AN=740;AMR_MALE_AC=14;AMR_MALE_AF=0.018919;AMR_MALE_N_BI_GENOS=370;AMR_MALE_N_HOMREF=356;AMR_MALE_N_HET=14;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.962162;AMR_MALE_FREQ_HET=0.0378378;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=766;AMR_FEMALE_AC=21;AMR_FEMALE_AF=0.027415;AMR_FEMALE_N_BI_GENOS=383;AMR_FEMALE_N_HOMREF=362;AMR_FEMALE_N_HET=21;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.94517;AMR_FEMALE_FREQ_HET=0.0548303;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1848;EAS_AC=79;EAS_AF=0.042749;EAS_N_BI_GENOS=924;EAS_N_HOMREF=845;EAS_N_HET=79;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.914502;EAS_FREQ_HET=0.0854978;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1058;EAS_MALE_AC=46;EAS_MALE_AF=0.043478;EAS_MALE_N_BI_GENOS=529;EAS_MALE_N_HOMREF=483;EAS_MALE_N_HET=46;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.913043;EAS_MALE_FREQ_HET=0.0869565;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=786;EAS_FEMALE_AC=33;EAS_FEMALE_AF=0.041985;EAS_FEMALE_N_BI_GENOS=393;EAS_FEMALE_N_HOMREF=360;EAS_FEMALE_N_HET=33;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.916031;EAS_FEMALE_FREQ_HET=0.0839695;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6260;EUR_AC=141;EUR_AF=0.022524;EUR_N_BI_GENOS=3130;EUR_N_HOMREF=2989;EUR_N_HET=141;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.954952;EUR_FREQ_HET=0.0450479;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2800;EUR_MALE_AC=76;EUR_MALE_AF=0.027143;EUR_MALE_N_BI_GENOS=1400;EUR_MALE_N_HOMREF=1324;EUR_MALE_N_HET=76;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.945714;EUR_MALE_FREQ_HET=0.0542857;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3442;EUR_FEMALE_AC=65;EUR_FEMALE_AF=0.018884;EUR_FEMALE_N_BI_GENOS=1721;EUR_FEMALE_N_HOMREF=1656;EUR_FEMALE_N_HET=65;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.962231;EUR_FEMALE_FREQ_HET=0.0377687;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=150;OTH_AC=3;OTH_AF=0.02;OTH_N_BI_GENOS=75;OTH_N_HOMREF=72;OTH_N_HET=3;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.96;OTH_FREQ_HET=0.04;OTH_FREQ_HOMALT=0;OTH_MALE_AN=66;OTH_MALE_AC=2;OTH_MALE_AF=0.030303;OTH_MALE_N_BI_GENOS=33;OTH_MALE_N_HOMREF=31;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.939394;OTH_MALE_FREQ_HET=0.0606061;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=84;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.011905;OTH_FEMALE_N_BI_GENOS=42;OTH_FEMALE_N_HOMREF=41;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.97619;OTH_FEMALE_FREQ_HET=0.0238095;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.042749 | |
| 352 1 462000 gnomAD-SV_v2.1_DUP_1_17 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=470342;SVTYPE=DUP;SVLEN=8342;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=15008;AC=1267;AF=0.084422;N_BI_GENOS=7504;N_HOMREF=6253;N_HET=1235;N_HOMALT=16;FREQ_HOMREF=0.833289;FREQ_HET=0.164579;FREQ_HOMALT=0.0021322;MALE_AN=7604;MALE_AC=587;MALE_AF=0.077196;MALE_N_BI_GENOS=3802;MALE_N_HOMREF=3224;MALE_N_HET=569;MALE_N_HOMALT=9;MALE_FREQ_HOMREF=0.847975;MALE_FREQ_HET=0.149658;MALE_FREQ_HOMALT=0.00236718;FEMALE_AN=7380;FEMALE_AC=678;FEMALE_AF=0.09187;FEMALE_N_BI_GENOS=3690;FEMALE_N_HOMREF=3019;FEMALE_N_HET=664;FEMALE_N_HOMALT=7;FEMALE_FREQ_HOMREF=0.818157;FEMALE_FREQ_HET=0.179946;FEMALE_FREQ_HOMALT=0.00189702;AFR_AN=6524;AFR_AC=470;AFR_AF=0.072042;AFR_N_BI_GENOS=3262;AFR_N_HOMREF=2799;AFR_N_HET=456;AFR_N_HOMALT=7;AFR_FREQ_HOMREF=0.858063;AFR_FREQ_HET=0.139792;AFR_FREQ_HOMALT=0.00214592;AFR_MALE_AN=3570;AFR_MALE_AC=222;AFR_MALE_AF=0.062185;AFR_MALE_N_BI_GENOS=1785;AFR_MALE_N_HOMREF=1566;AFR_MALE_N_HET=216;AFR_MALE_N_HOMALT=3;AFR_MALE_FREQ_HOMREF=0.877311;AFR_MALE_FREQ_HET=0.121008;AFR_MALE_FREQ_HOMALT=0.00168067;AFR_FEMALE_AN=2950;AFR_FEMALE_AC=247;AFR_FEMALE_AF=0.083729;AFR_FEMALE_N_BI_GENOS=1475;AFR_FEMALE_N_HOMREF=1232;AFR_FEMALE_N_HET=239;AFR_FEMALE_N_HOMALT=4;AFR_FEMALE_FREQ_HOMREF=0.835254;AFR_FEMALE_FREQ_HET=0.162034;AFR_FEMALE_FREQ_HOMALT=0.00271186;AMR_AN=1062;AMR_AC=132;AMR_AF=0.124294;AMR_N_BI_GENOS=531;AMR_N_HOMREF=403;AMR_N_HET=124;AMR_N_HOMALT=4;AMR_FREQ_HOMREF=0.758945;AMR_FREQ_HET=0.233522;AMR_FREQ_HOMALT=0.00753296;AMR_MALE_AN=494;AMR_MALE_AC=60;AMR_MALE_AF=0.121457;AMR_MALE_N_BI_GENOS=247;AMR_MALE_N_HOMREF=188;AMR_MALE_N_HET=58;AMR_MALE_N_HOMALT=1;AMR_MALE_FREQ_HOMREF=0.761134;AMR_MALE_FREQ_HET=0.234818;AMR_MALE_FREQ_HOMALT=0.00404858;AMR_FEMALE_AN=566;AMR_FEMALE_AC=72;AMR_FEMALE_AF=0.127208;AMR_FEMALE_N_BI_GENOS=283;AMR_FEMALE_N_HOMREF=214;AMR_FEMALE_N_HET=66;AMR_FEMALE_N_HOMALT=3;AMR_FEMALE_FREQ_HOMREF=0.756184;AMR_FEMALE_FREQ_HET=0.233216;AMR_FEMALE_FREQ_HOMALT=0.0106007;EAS_AN=1836;EAS_AC=157;EAS_AF=0.085512;EAS_N_BI_GENOS=918;EAS_N_HOMREF=761;EAS_N_HET=157;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.828976;EAS_FREQ_HET=0.171024;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1062;EAS_MALE_AC=84;EAS_MALE_AF=0.079096;EAS_MALE_N_BI_GENOS=531;EAS_MALE_N_HOMREF=447;EAS_MALE_N_HET=84;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.841808;EAS_MALE_FREQ_HET=0.158192;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=768;EAS_FEMALE_AC=73;EAS_FEMALE_AF=0.095052;EAS_FEMALE_N_BI_GENOS=384;EAS_FEMALE_N_HOMREF=311;EAS_FEMALE_N_HET=73;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.809896;EAS_FEMALE_FREQ_HET=0.190104;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5440;EUR_AC=492;EUR_AF=0.090441;EUR_N_BI_GENOS=2720;EUR_N_HOMREF=2233;EUR_N_HET=482;EUR_N_HOMALT=5;EUR_FREQ_HOMREF=0.820956;EUR_FREQ_HET=0.177206;EUR_FREQ_HOMALT=0.00183824;EUR_MALE_AN=2428;EUR_MALE_AC=215;EUR_MALE_AF=0.08855;EUR_MALE_N_BI_GENOS=1214;EUR_MALE_N_HOMREF=1004;EUR_MALE_N_HET=205;EUR_MALE_N_HOMALT=5;EUR_MALE_FREQ_HOMREF=0.827018;EUR_MALE_FREQ_HET=0.168863;EUR_MALE_FREQ_HOMALT=0.00411862;EUR_FEMALE_AN=3000;EUR_FEMALE_AC=276;EUR_FEMALE_AF=0.092;EUR_FEMALE_N_BI_GENOS=1500;EUR_FEMALE_N_HOMREF=1224;EUR_FEMALE_N_HET=276;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.816;EUR_FEMALE_FREQ_HET=0.184;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=146;OTH_AC=16;OTH_AF=0.109589;OTH_N_BI_GENOS=73;OTH_N_HOMREF=57;OTH_N_HET=16;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.780822;OTH_FREQ_HET=0.219178;OTH_FREQ_HOMALT=0;OTH_MALE_AN=50;OTH_MALE_AC=6;OTH_MALE_AF=0.12;OTH_MALE_N_BI_GENOS=25;OTH_MALE_N_HOMREF=19;OTH_MALE_N_HET=6;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.76;OTH_MALE_FREQ_HET=0.24;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=96;OTH_FEMALE_AC=10;OTH_FEMALE_AF=0.104167;OTH_FEMALE_N_BI_GENOS=48;OTH_FEMALE_N_HOMREF=38;OTH_FEMALE_N_HET=10;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.791667;OTH_FEMALE_FREQ_HET=0.208333;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.124294 | |
| 353 1 463000 gnomAD-SV_v2.1_DEL_1_24 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=468000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL627309.1;AN=9132;AC=167;AF=0.018287;N_BI_GENOS=4566;N_HOMREF=4399;N_HET=167;N_HOMALT=0;FREQ_HOMREF=0.963425;FREQ_HET=0.0365747;FREQ_HOMALT=0;MALE_AN=4648;MALE_AC=90;MALE_AF=0.019363;MALE_N_BI_GENOS=2324;MALE_N_HOMREF=2234;MALE_N_HET=90;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.961274;MALE_FREQ_HET=0.0387263;MALE_FREQ_HOMALT=0;FEMALE_AN=4466;FEMALE_AC=77;FEMALE_AF=0.017241;FEMALE_N_BI_GENOS=2233;FEMALE_N_HOMREF=2156;FEMALE_N_HET=77;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.965517;FEMALE_FREQ_HET=0.0344828;FEMALE_FREQ_HOMALT=0;AFR_AN=3962;AFR_AC=70;AFR_AF=0.017668;AFR_N_BI_GENOS=1981;AFR_N_HOMREF=1911;AFR_N_HET=70;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.964664;AFR_FREQ_HET=0.0353357;AFR_FREQ_HOMALT=0;AFR_MALE_AN=2172;AFR_MALE_AC=39;AFR_MALE_AF=0.017956;AFR_MALE_N_BI_GENOS=1086;AFR_MALE_N_HOMREF=1047;AFR_MALE_N_HET=39;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.964088;AFR_MALE_FREQ_HET=0.0359116;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=1786;AFR_FEMALE_AC=31;AFR_FEMALE_AF=0.017357;AFR_FEMALE_N_BI_GENOS=893;AFR_FEMALE_N_HOMREF=862;AFR_FEMALE_N_HET=31;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.965286;AFR_FEMALE_FREQ_HET=0.0347144;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=670;AMR_AC=14;AMR_AF=0.020896;AMR_N_BI_GENOS=335;AMR_N_HOMREF=321;AMR_N_HET=14;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.958209;AMR_FREQ_HET=0.041791;AMR_FREQ_HOMALT=0;AMR_MALE_AN=322;AMR_MALE_AC=8;AMR_MALE_AF=0.024845;AMR_MALE_N_BI_GENOS=161;AMR_MALE_N_HOMREF=153;AMR_MALE_N_HET=8;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.950311;AMR_MALE_FREQ_HET=0.0496894;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=346;AMR_FEMALE_AC=6;AMR_FEMALE_AF=0.017341;AMR_FEMALE_N_BI_GENOS=173;AMR_FEMALE_N_HOMREF=167;AMR_FEMALE_N_HET=6;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.965318;AMR_FEMALE_FREQ_HET=0.0346821;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1046;EAS_AC=26;EAS_AF=0.024857;EAS_N_BI_GENOS=523;EAS_N_HOMREF=497;EAS_N_HET=26;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.950287;EAS_FREQ_HET=0.0497132;EAS_FREQ_HOMALT=0;EAS_MALE_AN=602;EAS_MALE_AC=14;EAS_MALE_AF=0.023256;EAS_MALE_N_BI_GENOS=301;EAS_MALE_N_HOMREF=287;EAS_MALE_N_HET=14;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.953488;EAS_MALE_FREQ_HET=0.0465116;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=440;EAS_FEMALE_AC=12;EAS_FEMALE_AF=0.027273;EAS_FEMALE_N_BI_GENOS=220;EAS_FEMALE_N_HOMREF=208;EAS_FEMALE_N_HET=12;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.945455;EAS_FEMALE_FREQ_HET=0.0545455;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=3378;EUR_AC=57;EUR_AF=0.016874;EUR_N_BI_GENOS=1689;EUR_N_HOMREF=1632;EUR_N_HET=57;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.966252;EUR_FREQ_HET=0.0337478;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1524;EUR_MALE_AC=29;EUR_MALE_AF=0.019029;EUR_MALE_N_BI_GENOS=762;EUR_MALE_N_HOMREF=733;EUR_MALE_N_HET=29;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.961942;EUR_MALE_FREQ_HET=0.0380577;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=1846;EUR_FEMALE_AC=28;EUR_FEMALE_AF=0.015168;EUR_FEMALE_N_BI_GENOS=923;EUR_FEMALE_N_HOMREF=895;EUR_FEMALE_N_HET=28;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.969664;EUR_FEMALE_FREQ_HET=0.0303359;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=76;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=38;OTH_N_HOMREF=38;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=28;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=14;OTH_MALE_N_HOMREF=14;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=48;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=24;OTH_FEMALE_N_HOMREF=24;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.024857 | |
| 354 1 521800 gnomAD-SV_v2.1_MCNV_1_6 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7> 999 MULTIALLELIC END=546850;SVTYPE=MCNV;SVLEN=25050;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=10847;AC=168,3011,5252,2189,213,12,1,1;AF=0.015488,0.277588,0.484189,0.201807,0.019637,0.001106,9.2e-05,9.2e-05;MALE_AN=5528;MALE_AC=84,1596,2657,1065,119,6,0,1;MALE_AF=0.015195,0.288712,0.480644,0.192656,0.021527,0.001085,0,0.000181;FEMALE_AN=5296;FEMALE_AC=84,1409,2586,1118,92,6,1,0;FEMALE_AF=0.015861,0.26605,0.488293,0.211103,0.017372,0.001133,0.000189,0;AFR_AN=4767;AFR_AC=46,1857,1939,813,103,7,1,1;AFR_AF=0.00965,0.389553,0.406755,0.170548,0.021607,0.001468,0.00021,0.00021;AFR_MALE_AN=2615;AFR_MALE_AC=26,1047,1056,419,62,4,0,1;AFR_MALE_AF=0.009943,0.400382,0.403824,0.160229,0.023709,0.00153,0,0.000382;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=20,808,881,392,41,3,1,0;AFR_FEMALE_AF=0.00932,0.376514,0.410531,0.182665,0.019105,0.001398,0.000466,0;AMR_AN=965;AMR_AC=12,139,529,267,18,0,0,0;AMR_AF=0.012435,0.144041,0.548187,0.276684,0.018653,0,0,0;AMR_MALE_AN=480;AMR_MALE_AC=6,72,263,128,11,0,0,0;AMR_MALE_AF=0.0125,0.15,0.547917,0.266667,0.022917,0,0,0;AMR_FEMALE_AN=481;AMR_FEMALE_AC=6,66,264,139,6,0,0,0;AMR_FEMALE_AF=0.012474,0.137214,0.548857,0.288981,0.012474,0,0,0;EAS_AN=1208;EAS_AC=24,274,602,272,34,2,0,0;EAS_AF=0.019868,0.226821,0.498344,0.225166,0.028146,0.001656,0,0;EAS_MALE_AN=694;EAS_MALE_AC=15,155,358,139,25,2,0,0;EAS_MALE_AF=0.021614,0.223343,0.51585,0.200288,0.036023,0.002882,0,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=9,118,244,131,8,0,0,0;EAS_FEMALE_AF=0.017647,0.231373,0.478431,0.256863,0.015686,0,0,0;EUR_AN=3812;EUR_AC=84,725,2126,816,58,3,0,0;EUR_AF=0.022036,0.190189,0.557712,0.214061,0.015215,0.000787,0,0;EUR_MALE_AN=1701;EUR_MALE_AC=37,315,958,370,21,0,0,0;EUR_MALE_AF=0.021752,0.185185,0.563198,0.217519,0.012346,0,0,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=47,408,1163,444,37,3,0,0;EUR_FEMALE_AF=0.02236,0.194101,0.553283,0.211227,0.017602,0.001427,0,0;OTH_AN=95;OTH_AC=2,16,56,21,0,0,0,0;OTH_AF=0.021053,0.168421,0.589474,0.221053,0,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,7,22,9,0,0,0,0;OTH_MALE_AF=0,0.184211,0.578947,0.236842,0,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=2,9,34,12,0,0,0,0;OTH_FEMALE_AF=0.035088,0.157895,0.596491,0.210526,0,0,0,0 | |
| 355 1 522000 gnomAD-SV_v2.1_DUP_1_18 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=638000;SVTYPE=DUP;SVLEN=116000;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__COPY_GAIN=OR4F16;AN=10916;AC=710;AF=0.065042;N_BI_GENOS=5458;N_HOMREF=4840;N_HET=526;N_HOMALT=92;FREQ_HOMREF=0.886772;FREQ_HET=0.0963723;FREQ_HOMALT=0.016856;MALE_AN=5502;MALE_AC=354;MALE_AF=0.06434;MALE_N_BI_GENOS=2751;MALE_N_HOMREF=2445;MALE_N_HET=258;MALE_N_HOMALT=48;MALE_FREQ_HOMREF=0.888768;MALE_FREQ_HET=0.0937841;MALE_FREQ_HOMALT=0.0174482;FEMALE_AN=5394;FEMALE_AC=353;FEMALE_AF=0.065443;FEMALE_N_BI_GENOS=2697;FEMALE_N_HOMREF=2387;FEMALE_N_HET=267;FEMALE_N_HOMALT=43;FEMALE_FREQ_HOMREF=0.885057;FEMALE_FREQ_HET=0.0989989;FEMALE_FREQ_HOMALT=0.0159436;AFR_AN=5374;AFR_AC=392;AFR_AF=0.072944;AFR_N_BI_GENOS=2687;AFR_N_HOMREF=2369;AFR_N_HET=244;AFR_N_HOMALT=74;AFR_FREQ_HOMREF=0.881652;AFR_FREQ_HET=0.0908076;AFR_FREQ_HOMALT=0.02754;AFR_MALE_AN=2870;AFR_MALE_AC=209;AFR_MALE_AF=0.072822;AFR_MALE_N_BI_GENOS=1435;AFR_MALE_N_HOMREF=1268;AFR_MALE_N_HET=125;AFR_MALE_N_HOMALT=42;AFR_MALE_FREQ_HOMREF=0.883624;AFR_MALE_FREQ_HET=0.087108;AFR_MALE_FREQ_HOMALT=0.0292683;AFR_FEMALE_AN=2498;AFR_FEMALE_AC=183;AFR_FEMALE_AF=0.073259;AFR_FEMALE_N_BI_GENOS=1249;AFR_FEMALE_N_HOMREF=1098;AFR_FEMALE_N_HET=119;AFR_FEMALE_N_HOMALT=32;AFR_FEMALE_FREQ_HOMREF=0.879103;AFR_FEMALE_FREQ_HET=0.0952762;AFR_FEMALE_FREQ_HOMALT=0.0256205;AMR_AN=724;AMR_AC=38;AMR_AF=0.052486;AMR_N_BI_GENOS=362;AMR_N_HOMREF=324;AMR_N_HET=38;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.895028;AMR_FREQ_HET=0.104972;AMR_FREQ_HOMALT=0;AMR_MALE_AN=324;AMR_MALE_AC=10;AMR_MALE_AF=0.030864;AMR_MALE_N_BI_GENOS=162;AMR_MALE_N_HOMREF=152;AMR_MALE_N_HET=10;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.938272;AMR_MALE_FREQ_HET=0.0617284;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=398;AMR_FEMALE_AC=28;AMR_FEMALE_AF=0.070352;AMR_FEMALE_N_BI_GENOS=199;AMR_FEMALE_N_HOMREF=171;AMR_FEMALE_N_HET=28;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.859297;AMR_FEMALE_FREQ_HET=0.140704;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1170;EAS_AC=99;EAS_AF=0.084615;EAS_N_BI_GENOS=585;EAS_N_HOMREF=493;EAS_N_HET=85;EAS_N_HOMALT=7;EAS_FREQ_HOMREF=0.842735;EAS_FREQ_HET=0.145299;EAS_FREQ_HOMALT=0.0119658;EAS_MALE_AN=682;EAS_MALE_AC=54;EAS_MALE_AF=0.079179;EAS_MALE_N_BI_GENOS=341;EAS_MALE_N_HOMREF=290;EAS_MALE_N_HET=48;EAS_MALE_N_HOMALT=3;EAS_MALE_FREQ_HOMREF=0.85044;EAS_MALE_FREQ_HET=0.140762;EAS_MALE_FREQ_HOMALT=0.00879765;EAS_FEMALE_AN=484;EAS_FEMALE_AC=43;EAS_FEMALE_AF=0.088843;EAS_FEMALE_N_BI_GENOS=242;EAS_FEMALE_N_HOMREF=202;EAS_FEMALE_N_HET=37;EAS_FEMALE_N_HOMALT=3;EAS_FEMALE_FREQ_HOMREF=0.834711;EAS_FEMALE_FREQ_HET=0.152893;EAS_FEMALE_FREQ_HOMALT=0.0123967;EUR_AN=3568;EUR_AC=177;EUR_AF=0.049608;EUR_N_BI_GENOS=1784;EUR_N_HOMREF=1618;EUR_N_HET=155;EUR_N_HOMALT=11;EUR_FREQ_HOMREF=0.906951;EUR_FREQ_HET=0.0868834;EUR_FREQ_HOMALT=0.00616592;EUR_MALE_AN=1590;EUR_MALE_AC=79;EUR_MALE_AF=0.049686;EUR_MALE_N_BI_GENOS=795;EUR_MALE_N_HOMREF=719;EUR_MALE_N_HET=73;EUR_MALE_N_HOMALT=3;EUR_MALE_FREQ_HOMREF=0.904402;EUR_MALE_FREQ_HET=0.0918239;EUR_MALE_FREQ_HOMALT=0.00377358;EUR_FEMALE_AN=1970;EUR_FEMALE_AC=97;EUR_FEMALE_AF=0.049239;EUR_FEMALE_N_BI_GENOS=985;EUR_FEMALE_N_HOMREF=896;EUR_FEMALE_N_HET=81;EUR_FEMALE_N_HOMALT=8;EUR_FEMALE_FREQ_HOMREF=0.909645;EUR_FEMALE_FREQ_HET=0.0822335;EUR_FEMALE_FREQ_HOMALT=0.00812183;OTH_AN=80;OTH_AC=4;OTH_AF=0.05;OTH_N_BI_GENOS=40;OTH_N_HOMREF=36;OTH_N_HET=4;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.9;OTH_FREQ_HET=0.1;OTH_FREQ_HOMALT=0;OTH_MALE_AN=36;OTH_MALE_AC=2;OTH_MALE_AF=0.055556;OTH_MALE_N_BI_GENOS=18;OTH_MALE_N_HOMREF=16;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.888889;OTH_MALE_FREQ_HET=0.111111;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=44;OTH_FEMALE_AC=2;OTH_FEMALE_AF=0.045455;OTH_FEMALE_N_BI_GENOS=22;OTH_FEMALE_N_HOMREF=20;OTH_FEMALE_N_HET=2;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.909091;OTH_FEMALE_FREQ_HET=0.0909091;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.084615 | |
| 356 1 530886 gnomAD-SV_v2.1_INS_1_6 N <INS> 774 UNSTABLE_AF_PCRMINUS END=530887;SVTYPE=INS;SVLEN=58;CHR2=1;POS2=530907;END2=530908;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=19664;AC=13;AF=0.000661;N_BI_GENOS=9832;N_HOMREF=9819;N_HET=13;N_HOMALT=0;FREQ_HOMREF=0.998678;FREQ_HET=0.00132221;FREQ_HOMALT=0;MALE_AN=9890;MALE_AC=10;MALE_AF=0.001011;MALE_N_BI_GENOS=4945;MALE_N_HOMREF=4935;MALE_N_HET=10;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.997978;MALE_FREQ_HET=0.00202224;MALE_FREQ_HOMALT=0;FEMALE_AN=9736;FEMALE_AC=3;FEMALE_AF=0.000308;FEMALE_N_BI_GENOS=4868;FEMALE_N_HOMREF=4865;FEMALE_N_HET=3;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999384;FEMALE_FREQ_HET=0.00061627;FEMALE_FREQ_HOMALT=0;AFR_AN=8158;AFR_AC=13;AFR_AF=0.001594;AFR_N_BI_GENOS=4079;AFR_N_HOMREF=4066;AFR_N_HET=13;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.996813;AFR_FREQ_HET=0.00318706;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4416;AFR_MALE_AC=10;AFR_MALE_AF=0.002264;AFR_MALE_N_BI_GENOS=2208;AFR_MALE_N_HOMREF=2198;AFR_MALE_N_HET=10;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.995471;AFR_MALE_FREQ_HET=0.00452899;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3734;AFR_FEMALE_AC=3;AFR_FEMALE_AF=0.000803;AFR_FEMALE_N_BI_GENOS=1867;AFR_FEMALE_N_HOMREF=1864;AFR_FEMALE_N_HET=3;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.998393;AFR_FEMALE_FREQ_HET=0.00160686;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1458;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=729;AMR_N_HOMREF=729;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=696;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=348;AMR_MALE_N_HOMREF=348;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=758;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=379;AMR_FEMALE_N_HOMREF=379;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2414;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1207;EAS_N_HOMREF=1207;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1018;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=509;EAS_FEMALE_N_HOMREF=509;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7444;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3722;EUR_N_HOMREF=3722;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3314;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1657;EUR_MALE_N_HOMREF=1657;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4112;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2056;EUR_FEMALE_N_HOMREF=2056;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.001594 | |
| 357 1 530886 gnomAD-SV_v2.1_INS_1_7 N <INS> 74 PASS END=530887;SVTYPE=INS;SVLEN=58;CHR2=1;POS2=530895;END2=530896;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21512;AC=2;AF=9.3e-05;N_BI_GENOS=10756;N_HOMREF=10754;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999814;FREQ_HET=0.000185943;FREQ_HOMALT=0;MALE_AN=10960;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=5480;MALE_N_HOMREF=5480;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=10506;FEMALE_AC=2;FEMALE_AF=0.00019;FEMALE_N_BI_GENOS=5253;FEMALE_N_HOMREF=5251;FEMALE_N_HET=2;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999619;FEMALE_FREQ_HET=0.000380735;FEMALE_FREQ_HOMALT=0;AFR_AN=9358;AFR_AC=2;AFR_AF=0.000214;AFR_N_BI_GENOS=4679;AFR_N_HOMREF=4677;AFR_N_HET=2;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999573;AFR_FREQ_HET=0.000427442;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5134;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2567;AFR_MALE_N_HOMREF=2567;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4212;AFR_FEMALE_AC=2;AFR_FEMALE_AF=0.000475;AFR_FEMALE_N_BI_GENOS=2106;AFR_FEMALE_N_HOMREF=2104;AFR_FEMALE_N_HET=2;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.99905;AFR_FEMALE_FREQ_HET=0.000949668;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1928;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=964;AMR_N_HOMREF=964;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=960;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=480;AMR_FEMALE_N_HOMREF=480;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7620;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3810;EUR_N_HOMREF=3810;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4200;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2100;EUR_FEMALE_N_HOMREF=2100;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000214 | |
| 358 1 531073 gnomAD-SV_v2.1_BND_1_4 N <BND> 52 UNRESOLVED END=531074;SVTYPE=BND;SVLEN=6023;CHR2=1;POS2=537096;END2=537097;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=SR;UNRESOLVED_TYPE=SINGLE_ENDER_+-;AN=21694;AC=1;AF=4.6e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21914e-05;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5527;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.000180897;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=1;EAS_AF=0.000414;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1207;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999172;EAS_FREQ_HET=0.000827815;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=1;EAS_MALE_AF=0.00072;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=693;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.998559;EAS_MALE_FREQ_HET=0.00144092;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000414 | |
| 359 1 531100 gnomAD-SV_v2.1_DEL_1_25 N <DEL> 999 PASS END=613750;SVTYPE=DEL;SVLEN=82650;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21694;AC=7109;AF=0.327694;N_BI_GENOS=10847;N_HOMREF=4181;N_HET=6223;N_HOMALT=443;FREQ_HOMREF=0.385452;FREQ_HET=0.573707;FREQ_HOMALT=0.0408408;MALE_AN=11056;MALE_AC=3758;MALE_AF=0.339906;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=2008;MALE_N_HET=3282;MALE_N_HOMALT=238;MALE_FREQ_HOMREF=0.363242;MALE_FREQ_HET=0.593705;MALE_FREQ_HOMALT=0.0430535;FEMALE_AN=10592;FEMALE_AC=3340;FEMALE_AF=0.315332;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=2161;FEMALE_N_HET=2930;FEMALE_N_HOMALT=205;FEMALE_FREQ_HOMREF=0.408044;FEMALE_FREQ_HET=0.553248;FEMALE_FREQ_HOMALT=0.0387085;AFR_AN=9534;AFR_AC=4117;AFR_AF=0.431823;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=960;AFR_N_HET=3497;AFR_N_HOMALT=310;AFR_FREQ_HOMREF=0.201385;AFR_FREQ_HET=0.733585;AFR_FREQ_HOMALT=0.0650304;AFR_MALE_AN=5230;AFR_MALE_AC=2277;AFR_MALE_AF=0.435373;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=511;AFR_MALE_N_HET=1931;AFR_MALE_N_HOMALT=173;AFR_MALE_FREQ_HOMREF=0.195411;AFR_MALE_FREQ_HET=0.738432;AFR_MALE_FREQ_HOMALT=0.0661568;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=1837;AFR_FEMALE_AF=0.428006;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=446;AFR_FEMALE_N_HET=1563;AFR_FEMALE_N_HOMALT=137;AFR_FEMALE_FREQ_HOMREF=0.207829;AFR_FEMALE_FREQ_HET=0.728332;AFR_FEMALE_FREQ_HOMALT=0.0638397;AMR_AN=1930;AMR_AC=458;AMR_AF=0.237306;AMR_N_BI_GENOS=965;AMR_N_HOMREF=533;AMR_N_HET=406;AMR_N_HOMALT=26;AMR_FREQ_HOMREF=0.552332;AMR_FREQ_HET=0.420725;AMR_FREQ_HOMALT=0.026943;AMR_MALE_AN=960;AMR_MALE_AC=240;AMR_MALE_AF=0.25;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=253;AMR_MALE_N_HET=214;AMR_MALE_N_HOMALT=13;AMR_MALE_FREQ_HOMREF=0.527083;AMR_MALE_FREQ_HET=0.445833;AMR_MALE_FREQ_HOMALT=0.0270833;AMR_FEMALE_AN=962;AMR_FEMALE_AC=217;AMR_FEMALE_AF=0.225572;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=277;AMR_FEMALE_N_HET=191;AMR_FEMALE_N_HOMALT=13;AMR_FEMALE_FREQ_HOMREF=0.575884;AMR_FEMALE_FREQ_HET=0.397089;AMR_FEMALE_FREQ_HOMALT=0.027027;EAS_AN=2416;EAS_AC=692;EAS_AF=0.286424;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=558;EAS_N_HET=608;EAS_N_HOMALT=42;EAS_FREQ_HOMREF=0.461921;EAS_FREQ_HET=0.503311;EAS_FREQ_HOMALT=0.0347682;EAS_MALE_AN=1388;EAS_MALE_AC=410;EAS_MALE_AF=0.295389;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=309;EAS_MALE_N_HET=360;EAS_MALE_N_HOMALT=25;EAS_MALE_FREQ_HOMREF=0.445245;EAS_MALE_FREQ_HET=0.518732;EAS_MALE_FREQ_HOMALT=0.0360231;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=281;EAS_FEMALE_AF=0.27549;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=246;EAS_FEMALE_N_HET=247;EAS_FEMALE_N_HOMALT=17;EAS_FEMALE_FREQ_HOMREF=0.482353;EAS_FEMALE_FREQ_HET=0.484314;EAS_FEMALE_FREQ_HOMALT=0.0333333;EUR_AN=7624;EUR_AC=1784;EUR_AF=0.233998;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=2092;EUR_N_HET=1656;EUR_N_HOMALT=64;EUR_FREQ_HOMREF=0.548793;EUR_FREQ_HET=0.434418;EUR_FREQ_HOMALT=0.0167891;EUR_MALE_AN=3402;EUR_MALE_AC=809;EUR_MALE_AF=0.237801;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=918;EUR_MALE_N_HET=757;EUR_MALE_N_HOMALT=26;EUR_MALE_FREQ_HOMREF=0.539683;EUR_MALE_FREQ_HET=0.445032;EUR_MALE_FREQ_HOMALT=0.0152851;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=969;EUR_FEMALE_AF=0.230495;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=1171;EUR_FEMALE_N_HET=893;EUR_FEMALE_N_HOMALT=38;EUR_FEMALE_FREQ_HOMREF=0.557088;EUR_FEMALE_FREQ_HET=0.424834;EUR_FEMALE_FREQ_HOMALT=0.018078;OTH_AN=190;OTH_AC=58;OTH_AF=0.305263;OTH_N_BI_GENOS=95;OTH_N_HOMREF=38;OTH_N_HET=56;OTH_N_HOMALT=1;OTH_FREQ_HOMREF=0.4;OTH_FREQ_HET=0.589474;OTH_FREQ_HOMALT=0.0105263;OTH_MALE_AN=76;OTH_MALE_AC=22;OTH_MALE_AF=0.289474;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=17;OTH_MALE_N_HET=20;OTH_MALE_N_HOMALT=1;OTH_MALE_FREQ_HOMREF=0.447368;OTH_MALE_FREQ_HET=0.526316;OTH_MALE_FREQ_HOMALT=0.0263158;OTH_FEMALE_AN=114;OTH_FEMALE_AC=36;OTH_FEMALE_AF=0.315789;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=21;OTH_FEMALE_N_HET=36;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.368421;OTH_FEMALE_FREQ_HET=0.631579;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.431823 | |
| 360 1 532000 gnomAD-SV_v2.1_DUP_1_19 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=537000;SVTYPE=DUP;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=10070;AC=1539;AF=0.15283;N_BI_GENOS=5035;N_HOMREF=3705;N_HET=1121;N_HOMALT=209;FREQ_HOMREF=0.735849;FREQ_HET=0.222642;FREQ_HOMALT=0.0415094;MALE_AN=5202;MALE_AC=731;MALE_AF=0.140523;MALE_N_BI_GENOS=2601;MALE_N_HOMREF=1976;MALE_N_HET=519;MALE_N_HOMALT=106;MALE_FREQ_HOMREF=0.759708;MALE_FREQ_HET=0.199539;MALE_FREQ_HOMALT=0.0407536;FEMALE_AN=4846;FEMALE_AC=801;FEMALE_AF=0.165291;FEMALE_N_BI_GENOS=2423;FEMALE_N_HOMREF=1723;FEMALE_N_HET=599;FEMALE_N_HOMALT=101;FEMALE_FREQ_HOMREF=0.711102;FEMALE_FREQ_HET=0.247214;FEMALE_FREQ_HOMALT=0.0416839;AFR_AN=4956;AFR_AC=403;AFR_AF=0.081316;AFR_N_BI_GENOS=2478;AFR_N_HOMREF=2136;AFR_N_HET=281;AFR_N_HOMALT=61;AFR_FREQ_HOMREF=0.861985;AFR_FREQ_HET=0.113398;AFR_FREQ_HOMALT=0.0246166;AFR_MALE_AN=2708;AFR_MALE_AC=206;AFR_MALE_AF=0.076071;AFR_MALE_N_BI_GENOS=1354;AFR_MALE_N_HOMREF=1185;AFR_MALE_N_HET=132;AFR_MALE_N_HOMALT=37;AFR_MALE_FREQ_HOMREF=0.875185;AFR_MALE_FREQ_HET=0.0974889;AFR_MALE_FREQ_HOMALT=0.0273264;AFR_FEMALE_AN=2242;AFR_FEMALE_AC=197;AFR_FEMALE_AF=0.087868;AFR_FEMALE_N_BI_GENOS=1121;AFR_FEMALE_N_HOMREF=948;AFR_FEMALE_N_HET=149;AFR_FEMALE_N_HOMALT=24;AFR_FEMALE_FREQ_HOMREF=0.845674;AFR_FEMALE_FREQ_HET=0.132917;AFR_FEMALE_FREQ_HOMALT=0.0214095;AMR_AN=782;AMR_AC=195;AMR_AF=0.249361;AMR_N_BI_GENOS=391;AMR_N_HOMREF=212;AMR_N_HET=163;AMR_N_HOMALT=16;AMR_FREQ_HOMREF=0.542199;AMR_FREQ_HET=0.41688;AMR_FREQ_HOMALT=0.0409207;AMR_MALE_AN=364;AMR_MALE_AC=82;AMR_MALE_AF=0.225275;AMR_MALE_N_BI_GENOS=182;AMR_MALE_N_HOMREF=105;AMR_MALE_N_HET=72;AMR_MALE_N_HOMALT=5;AMR_MALE_FREQ_HOMREF=0.576923;AMR_MALE_FREQ_HET=0.395604;AMR_MALE_FREQ_HOMALT=0.0274725;AMR_FEMALE_AN=418;AMR_FEMALE_AC=113;AMR_FEMALE_AF=0.270335;AMR_FEMALE_N_BI_GENOS=209;AMR_FEMALE_N_HOMREF=107;AMR_FEMALE_N_HET=91;AMR_FEMALE_N_HOMALT=11;AMR_FEMALE_FREQ_HOMREF=0.511962;AMR_FEMALE_FREQ_HET=0.435407;AMR_FEMALE_FREQ_HOMALT=0.0526316;EAS_AN=1250;EAS_AC=320;EAS_AF=0.256;EAS_N_BI_GENOS=625;EAS_N_HOMREF=379;EAS_N_HET=172;EAS_N_HOMALT=74;EAS_FREQ_HOMREF=0.6064;EAS_FREQ_HET=0.2752;EAS_FREQ_HOMALT=0.1184;EAS_MALE_AN=744;EAS_MALE_AC=178;EAS_MALE_AF=0.239247;EAS_MALE_N_BI_GENOS=372;EAS_MALE_N_HOMREF=236;EAS_MALE_N_HET=94;EAS_MALE_N_HOMALT=42;EAS_MALE_FREQ_HOMREF=0.634409;EAS_MALE_FREQ_HET=0.252688;EAS_MALE_FREQ_HOMALT=0.112903;EAS_FEMALE_AN=500;EAS_FEMALE_AC=137;EAS_FEMALE_AF=0.274;EAS_FEMALE_N_BI_GENOS=250;EAS_FEMALE_N_HOMREF=143;EAS_FEMALE_N_HET=77;EAS_FEMALE_N_HOMALT=30;EAS_FEMALE_FREQ_HOMREF=0.572;EAS_FEMALE_FREQ_HET=0.308;EAS_FEMALE_FREQ_HOMALT=0.12;EUR_AN=2984;EUR_AC=606;EUR_AF=0.203083;EUR_N_BI_GENOS=1492;EUR_N_HOMREF=942;EUR_N_HET=494;EUR_N_HOMALT=56;EUR_FREQ_HOMREF=0.631367;EUR_FREQ_HET=0.331099;EUR_FREQ_HOMALT=0.0375335;EUR_MALE_AN=1348;EUR_MALE_AC=259;EUR_MALE_AF=0.192136;EUR_MALE_N_BI_GENOS=674;EUR_MALE_N_HOMREF=437;EUR_MALE_N_HET=215;EUR_MALE_N_HOMALT=22;EUR_MALE_FREQ_HOMREF=0.648368;EUR_MALE_FREQ_HET=0.318991;EUR_MALE_FREQ_HOMALT=0.0326409;EUR_FEMALE_AN=1626;EUR_FEMALE_AC=345;EUR_FEMALE_AF=0.212177;EUR_FEMALE_N_BI_GENOS=813;EUR_FEMALE_N_HOMREF=502;EUR_FEMALE_N_HET=277;EUR_FEMALE_N_HOMALT=34;EUR_FEMALE_FREQ_HOMREF=0.617466;EUR_FEMALE_FREQ_HET=0.340713;EUR_FEMALE_FREQ_HOMALT=0.0418204;OTH_AN=98;OTH_AC=15;OTH_AF=0.153061;OTH_N_BI_GENOS=49;OTH_N_HOMREF=36;OTH_N_HET=11;OTH_N_HOMALT=2;OTH_FREQ_HOMREF=0.734694;OTH_FREQ_HET=0.22449;OTH_FREQ_HOMALT=0.0408163;OTH_MALE_AN=38;OTH_MALE_AC=6;OTH_MALE_AF=0.157895;OTH_MALE_N_BI_GENOS=19;OTH_MALE_N_HOMREF=13;OTH_MALE_N_HET=6;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.684211;OTH_MALE_FREQ_HET=0.315789;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=60;OTH_FEMALE_AC=9;OTH_FEMALE_AF=0.15;OTH_FEMALE_N_BI_GENOS=30;OTH_FEMALE_N_HOMREF=23;OTH_FEMALE_N_HET=5;OTH_FEMALE_N_HOMALT=2;OTH_FEMALE_FREQ_HOMREF=0.766667;OTH_FEMALE_FREQ_HET=0.166667;OTH_FEMALE_FREQ_HOMALT=0.0666667;POPMAX_AF=0.256 | |
| 361 1 535817 gnomAD-SV_v2.1_DEL_1_26 N <DEL> 968 UNSTABLE_AF_PCRMINUS END=536117;SVTYPE=DEL;SVLEN=300;ALGORITHMS=manta;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=18786;AC=1;AF=5.3e-05;N_BI_GENOS=9393;N_HOMREF=9392;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999894;FREQ_HET=0.000106462;FREQ_HOMALT=0;MALE_AN=9580;MALE_AC=1;MALE_AF=0.000104;MALE_N_BI_GENOS=4790;MALE_N_HOMREF=4789;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999791;MALE_FREQ_HET=0.000208768;MALE_FREQ_HOMALT=0;FEMALE_AN=9168;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=4584;FEMALE_N_HOMREF=4584;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=7922;AFR_AC=1;AFR_AF=0.000126;AFR_N_BI_GENOS=3961;AFR_N_HOMREF=3960;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999748;AFR_FREQ_HET=0.000252461;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4356;AFR_MALE_AC=1;AFR_MALE_AF=0.00023;AFR_MALE_N_BI_GENOS=2178;AFR_MALE_N_HOMREF=2177;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999541;AFR_MALE_FREQ_HET=0.000459137;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3558;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=1779;AFR_FEMALE_N_HOMREF=1779;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1392;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=696;AMR_N_HOMREF=696;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=674;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=337;AMR_MALE_N_HOMREF=337;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=714;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=357;AMR_FEMALE_N_HOMREF=357;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2262;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1131;EAS_N_HOMREF=1131;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1306;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=653;EAS_MALE_N_HOMREF=653;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=948;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=474;EAS_FEMALE_N_HOMREF=474;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7034;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3517;EUR_N_HOMREF=3517;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3172;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1586;EUR_MALE_N_HOMREF=1586;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3844;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1922;EUR_FEMALE_N_HOMREF=1922;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=176;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=88;OTH_N_HOMREF=88;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=72;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=36;OTH_MALE_N_HOMREF=36;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=104;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=52;OTH_FEMALE_N_HOMREF=52;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000126 | |
| 362 1 536000 gnomAD-SV_v2.1_DEL_1_27 N <DEL> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=541000;SVTYPE=DEL;SVLEN=5000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=15178;AC=1055;AF=0.069508;N_BI_GENOS=7589;N_HOMREF=6534;N_HET=1055;N_HOMALT=0;FREQ_HOMREF=0.860983;FREQ_HET=0.139017;FREQ_HOMALT=0;MALE_AN=7680;MALE_AC=546;MALE_AF=0.071094;MALE_N_BI_GENOS=3840;MALE_N_HOMREF=3294;MALE_N_HET=546;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.857813;MALE_FREQ_HET=0.142188;MALE_FREQ_HOMALT=0;FEMALE_AN=7470;FEMALE_AC=506;FEMALE_AF=0.067738;FEMALE_N_BI_GENOS=3735;FEMALE_N_HOMREF=3229;FEMALE_N_HET=506;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.864525;FEMALE_FREQ_HET=0.135475;FEMALE_FREQ_HOMALT=0;AFR_AN=6406;AFR_AC=528;AFR_AF=0.082423;AFR_N_BI_GENOS=3203;AFR_N_HOMREF=2675;AFR_N_HET=528;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.835155;AFR_FREQ_HET=0.164845;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3492;AFR_MALE_AC=298;AFR_MALE_AF=0.085338;AFR_MALE_N_BI_GENOS=1746;AFR_MALE_N_HOMREF=1448;AFR_MALE_N_HET=298;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.829324;AFR_MALE_FREQ_HET=0.170676;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2910;AFR_FEMALE_AC=230;AFR_FEMALE_AF=0.079038;AFR_FEMALE_N_BI_GENOS=1455;AFR_FEMALE_N_HOMREF=1225;AFR_FEMALE_N_HET=230;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.841924;AFR_FEMALE_FREQ_HET=0.158076;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1178;AMR_AC=35;AMR_AF=0.029711;AMR_N_BI_GENOS=589;AMR_N_HOMREF=554;AMR_N_HET=35;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.940577;AMR_FREQ_HET=0.0594228;AMR_FREQ_HOMALT=0;AMR_MALE_AN=574;AMR_MALE_AC=23;AMR_MALE_AF=0.04007;AMR_MALE_N_BI_GENOS=287;AMR_MALE_N_HOMREF=264;AMR_MALE_N_HET=23;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.919861;AMR_MALE_FREQ_HET=0.0801394;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=600;AMR_FEMALE_AC=11;AMR_FEMALE_AF=0.018333;AMR_FEMALE_N_BI_GENOS=300;AMR_FEMALE_N_HOMREF=289;AMR_FEMALE_N_HET=11;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.963333;AMR_FEMALE_FREQ_HET=0.0366667;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1718;EAS_AC=122;EAS_AF=0.071013;EAS_N_BI_GENOS=859;EAS_N_HOMREF=737;EAS_N_HET=122;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.857974;EAS_FREQ_HET=0.142026;EAS_FREQ_HOMALT=0;EAS_MALE_AN=996;EAS_MALE_AC=71;EAS_MALE_AF=0.071285;EAS_MALE_N_BI_GENOS=498;EAS_MALE_N_HOMREF=427;EAS_MALE_N_HET=71;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.85743;EAS_MALE_FREQ_HET=0.14257;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=718;EAS_FEMALE_AC=51;EAS_FEMALE_AF=0.071031;EAS_FEMALE_N_BI_GENOS=359;EAS_FEMALE_N_HOMREF=308;EAS_FEMALE_N_HET=51;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.857939;EAS_FEMALE_FREQ_HET=0.142061;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5730;EUR_AC=362;EUR_AF=0.063176;EUR_N_BI_GENOS=2865;EUR_N_HOMREF=2503;EUR_N_HET=362;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.873647;EUR_FREQ_HET=0.126353;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2554;EUR_MALE_AC=151;EUR_MALE_AF=0.059123;EUR_MALE_N_BI_GENOS=1277;EUR_MALE_N_HOMREF=1126;EUR_MALE_N_HET=151;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.881754;EUR_MALE_FREQ_HET=0.118246;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3160;EUR_FEMALE_AC=209;EUR_FEMALE_AF=0.066139;EUR_FEMALE_N_BI_GENOS=1580;EUR_FEMALE_N_HOMREF=1371;EUR_FEMALE_N_HET=209;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.867721;EUR_FEMALE_FREQ_HET=0.132278;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=146;OTH_AC=8;OTH_AF=0.054795;OTH_N_BI_GENOS=73;OTH_N_HOMREF=65;OTH_N_HET=8;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.890411;OTH_FREQ_HET=0.109589;OTH_FREQ_HOMALT=0;OTH_MALE_AN=64;OTH_MALE_AC=3;OTH_MALE_AF=0.046875;OTH_MALE_N_BI_GENOS=32;OTH_MALE_N_HOMREF=29;OTH_MALE_N_HET=3;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.90625;OTH_MALE_FREQ_HET=0.09375;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=82;OTH_FEMALE_AC=5;OTH_FEMALE_AF=0.060976;OTH_FEMALE_N_BI_GENOS=41;OTH_FEMALE_N_HOMREF=36;OTH_FEMALE_N_HET=5;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.878049;OTH_FEMALE_FREQ_HET=0.121951;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.082423 | |
| 363 1 536038 gnomAD-SV_v2.1_DUP_1_20 N <DUP> 386 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=536215;SVTYPE=DUP;SVLEN=177;ALGORITHMS=delly;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=17224;AC=1;AF=5.8e-05;N_BI_GENOS=8612;N_HOMREF=8611;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999884;FREQ_HET=0.000116117;FREQ_HOMALT=0;MALE_AN=8582;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=4291;MALE_N_HOMREF=4291;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=8608;FEMALE_AC=1;FEMALE_AF=0.000116;FEMALE_N_BI_GENOS=4304;FEMALE_N_HOMREF=4303;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999768;FEMALE_FREQ_HET=0.000232342;FEMALE_FREQ_HOMALT=0;AFR_AN=6956;AFR_AC=1;AFR_AF=0.000144;AFR_N_BI_GENOS=3478;AFR_N_HOMREF=3477;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999712;AFR_FREQ_HET=0.000287522;AFR_FREQ_HOMALT=0;AFR_MALE_AN=3750;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=1875;AFR_MALE_N_HOMREF=1875;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3198;AFR_FEMALE_AC=1;AFR_FEMALE_AF=0.000313;AFR_FEMALE_N_BI_GENOS=1599;AFR_FEMALE_N_HOMREF=1598;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.999375;AFR_FEMALE_FREQ_HET=0.000625391;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1262;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=631;AMR_N_HOMREF=631;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=592;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=296;AMR_MALE_N_HOMREF=296;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=666;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=333;AMR_FEMALE_N_HOMREF=333;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2016;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1008;EAS_N_HOMREF=1008;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1138;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=569;EAS_MALE_N_HOMREF=569;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=872;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=436;EAS_FEMALE_N_HOMREF=436;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6822;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3411;EUR_N_HOMREF=3411;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3034;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1517;EUR_MALE_N_HOMREF=1517;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3772;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1886;EUR_FEMALE_N_HOMREF=1886;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=168;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=84;OTH_N_HOMREF=84;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=68;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=34;OTH_MALE_N_HOMREF=34;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=100;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=50;OTH_FEMALE_N_HOMREF=50;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000144 | |
| 364 1 544840 gnomAD-SV_v2.1_BND_1_5 N <BND> 25 UNRESOLVED END=544841;SVTYPE=BND;SVLEN=1175;CHR2=1;POS2=546015;END2=546016;ALGORITHMS=delly;EVIDENCE=SR;HIGH_SR_BACKGROUND;UNRESOLVED_TYPE=SINGLE_ENDER_+-;AN=21272;AC=1;AF=4.7e-05;N_BI_GENOS=10636;N_HOMREF=10635;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999906;FREQ_HET=9.40203e-05;FREQ_HOMALT=0;MALE_AN=10826;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=5413;MALE_N_HOMREF=5413;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=10402;FEMALE_AC=1;FEMALE_AF=9.6e-05;FEMALE_N_BI_GENOS=5201;FEMALE_N_HOMREF=5200;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999808;FEMALE_FREQ_HET=0.000192271;FEMALE_FREQ_HOMALT=0;AFR_AN=9278;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4639;AFR_N_HOMREF=4639;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5082;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2541;AFR_MALE_N_HOMREF=2541;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4186;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2093;AFR_FEMALE_N_HOMREF=2093;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1868;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=934;AMR_N_HOMREF=934;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=930;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=465;AMR_MALE_N_HOMREF=465;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=930;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=465;AMR_FEMALE_N_HOMREF=465;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2400;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1200;EAS_N_HOMREF=1200;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1376;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=688;EAS_MALE_N_HOMREF=688;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1016;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=508;EAS_FEMALE_N_HOMREF=508;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7542;EUR_AC=1;EUR_AF=0.000133;EUR_N_BI_GENOS=3771;EUR_N_HOMREF=3770;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999735;EUR_FREQ_HET=0.000265182;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3364;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1682;EUR_MALE_N_HOMREF=1682;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4160;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.00024;EUR_FEMALE_N_BI_GENOS=2080;EUR_FEMALE_N_HOMREF=2079;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999519;EUR_FEMALE_FREQ_HET=0.000480769;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=184;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=92;OTH_N_HOMREF=92;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=74;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=37;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=110;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=55;OTH_FEMALE_N_HOMREF=55;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000133 | |
| 365 1 547599 gnomAD-SV_v2.1_DUP_1_22 N <DUP> 110 PASS END=547802;SVTYPE=DUP;SVLEN=203;ALGORITHMS=delly;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21344;AC=1;AF=4.7e-05;N_BI_GENOS=10672;N_HOMREF=10671;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999906;FREQ_HET=9.37032e-05;FREQ_HOMALT=0;MALE_AN=10886;MALE_AC=1;MALE_AF=9.2e-05;MALE_N_BI_GENOS=5443;MALE_N_HOMREF=5442;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999816;MALE_FREQ_HET=0.000183722;MALE_FREQ_HOMALT=0;FEMALE_AN=10412;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5206;FEMALE_N_HOMREF=5206;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9398;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4699;AFR_N_HOMREF=4699;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5166;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2583;AFR_MALE_N_HOMREF=2583;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4220;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2110;AFR_FEMALE_N_HOMREF=2110;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1902;AMR_AC=1;AMR_AF=0.000526;AMR_N_BI_GENOS=951;AMR_N_HOMREF=950;AMR_N_HET=1;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.998948;AMR_FREQ_HET=0.00105152;AMR_FREQ_HOMALT=0;AMR_MALE_AN=946;AMR_MALE_AC=1;AMR_MALE_AF=0.001057;AMR_MALE_N_BI_GENOS=473;AMR_MALE_N_HOMREF=472;AMR_MALE_N_HET=1;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.997886;AMR_MALE_FREQ_HET=0.00211416;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=948;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=474;AMR_FEMALE_N_HOMREF=474;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2362;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1181;EAS_N_HOMREF=1181;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1356;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=678;EAS_MALE_N_HOMREF=678;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=998;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=499;EAS_FEMALE_N_HOMREF=499;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7494;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3747;EUR_N_HOMREF=3747;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3344;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1672;EUR_MALE_N_HOMREF=1672;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4132;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2066;EUR_FEMALE_N_HOMREF=2066;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=188;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=94;OTH_N_HOMREF=94;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=74;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=37;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000526 | |
| 366 1 548450 gnomAD-SV_v2.1_DUP_1_23 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=564400;SVTYPE=DUP;SVLEN=15950;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=12816;AC=982;AF=0.076623;N_BI_GENOS=6408;N_HOMREF=5536;N_HET=762;N_HOMALT=110;FREQ_HOMREF=0.86392;FREQ_HET=0.118914;FREQ_HOMALT=0.017166;MALE_AN=6480;MALE_AC=489;MALE_AF=0.075463;MALE_N_BI_GENOS=3240;MALE_N_HOMREF=2805;MALE_N_HET=381;MALE_N_HOMALT=54;MALE_FREQ_HOMREF=0.865741;MALE_FREQ_HET=0.117593;MALE_FREQ_HOMALT=0.0166667;FEMALE_AN=6314;FEMALE_AC=489;FEMALE_AF=0.077447;FEMALE_N_BI_GENOS=3157;FEMALE_N_HOMREF=2723;FEMALE_N_HET=379;FEMALE_N_HOMALT=55;FEMALE_FREQ_HOMREF=0.862528;FEMALE_FREQ_HET=0.120051;FEMALE_FREQ_HOMALT=0.0174216;AFR_AN=5938;AFR_AC=459;AFR_AF=0.077299;AFR_N_BI_GENOS=2969;AFR_N_HOMREF=2582;AFR_N_HET=315;AFR_N_HOMALT=72;AFR_FREQ_HOMREF=0.869653;AFR_FREQ_HET=0.106096;AFR_FREQ_HOMALT=0.0242506;AFR_MALE_AN=3208;AFR_MALE_AC=246;AFR_MALE_AF=0.076683;AFR_MALE_N_BI_GENOS=1604;AFR_MALE_N_HOMREF=1396;AFR_MALE_N_HET=170;AFR_MALE_N_HOMALT=38;AFR_MALE_FREQ_HOMREF=0.870324;AFR_MALE_FREQ_HET=0.105985;AFR_MALE_FREQ_HOMALT=0.0236908;AFR_FEMALE_AN=2726;AFR_FEMALE_AC=213;AFR_FEMALE_AF=0.078136;AFR_FEMALE_N_BI_GENOS=1363;AFR_FEMALE_N_HOMREF=1184;AFR_FEMALE_N_HET=145;AFR_FEMALE_N_HOMALT=34;AFR_FEMALE_FREQ_HOMREF=0.868672;AFR_FEMALE_FREQ_HET=0.106383;AFR_FEMALE_FREQ_HOMALT=0.024945;AMR_AN=840;AMR_AC=73;AMR_AF=0.086905;AMR_N_BI_GENOS=420;AMR_N_HOMREF=351;AMR_N_HET=65;AMR_N_HOMALT=4;AMR_FREQ_HOMREF=0.835714;AMR_FREQ_HET=0.154762;AMR_FREQ_HOMALT=0.00952381;AMR_MALE_AN=398;AMR_MALE_AC=27;AMR_MALE_AF=0.067839;AMR_MALE_N_BI_GENOS=199;AMR_MALE_N_HOMREF=172;AMR_MALE_N_HET=27;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.864322;AMR_MALE_FREQ_HET=0.135678;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=440;AMR_FEMALE_AC=46;AMR_FEMALE_AF=0.104545;AMR_FEMALE_N_BI_GENOS=220;AMR_FEMALE_N_HOMREF=178;AMR_FEMALE_N_HET=38;AMR_FEMALE_N_HOMALT=4;AMR_FEMALE_FREQ_HOMREF=0.809091;AMR_FEMALE_FREQ_HET=0.172727;AMR_FEMALE_FREQ_HOMALT=0.0181818;EAS_AN=1414;EAS_AC=113;EAS_AF=0.079915;EAS_N_BI_GENOS=707;EAS_N_HOMREF=607;EAS_N_HET=87;EAS_N_HOMALT=13;EAS_FREQ_HOMREF=0.858557;EAS_FREQ_HET=0.123055;EAS_FREQ_HOMALT=0.0183876;EAS_MALE_AN=820;EAS_MALE_AC=68;EAS_MALE_AF=0.082927;EAS_MALE_N_BI_GENOS=410;EAS_MALE_N_HOMREF=351;EAS_MALE_N_HET=50;EAS_MALE_N_HOMALT=9;EAS_MALE_FREQ_HOMREF=0.856098;EAS_MALE_FREQ_HET=0.121951;EAS_MALE_FREQ_HOMALT=0.0219512;EAS_FEMALE_AN=588;EAS_FEMALE_AC=42;EAS_FEMALE_AF=0.071429;EAS_FEMALE_N_BI_GENOS=294;EAS_FEMALE_N_HOMREF=255;EAS_FEMALE_N_HET=36;EAS_FEMALE_N_HOMALT=3;EAS_FEMALE_FREQ_HOMREF=0.867347;EAS_FEMALE_FREQ_HET=0.122449;EAS_FEMALE_FREQ_HOMALT=0.0102041;EUR_AN=4530;EUR_AC=331;EUR_AF=0.073068;EUR_N_BI_GENOS=2265;EUR_N_HOMREF=1955;EUR_N_HET=289;EUR_N_HOMALT=21;EUR_FREQ_HOMREF=0.863135;EUR_FREQ_HET=0.127594;EUR_FREQ_HOMALT=0.00927152;EUR_MALE_AN=2018;EUR_MALE_AC=146;EUR_MALE_AF=0.072349;EUR_MALE_N_BI_GENOS=1009;EUR_MALE_N_HOMREF=870;EUR_MALE_N_HET=132;EUR_MALE_N_HOMALT=7;EUR_MALE_FREQ_HOMREF=0.86224;EUR_MALE_FREQ_HET=0.130823;EUR_MALE_FREQ_HOMALT=0.00693756;EUR_FEMALE_AN=2502;EUR_FEMALE_AC=184;EUR_FEMALE_AF=0.073541;EUR_FEMALE_N_BI_GENOS=1251;EUR_FEMALE_N_HOMREF=1081;EUR_FEMALE_N_HET=156;EUR_FEMALE_N_HOMALT=14;EUR_FEMALE_FREQ_HOMREF=0.864109;EUR_FEMALE_FREQ_HET=0.1247;EUR_FEMALE_FREQ_HOMALT=0.011191;OTH_AN=94;OTH_AC=6;OTH_AF=0.06383;OTH_N_BI_GENOS=47;OTH_N_HOMREF=41;OTH_N_HET=6;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.87234;OTH_FREQ_HET=0.12766;OTH_FREQ_HOMALT=0;OTH_MALE_AN=36;OTH_MALE_AC=2;OTH_MALE_AF=0.055556;OTH_MALE_N_BI_GENOS=18;OTH_MALE_N_HOMREF=16;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.888889;OTH_MALE_FREQ_HET=0.111111;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=58;OTH_FEMALE_AC=4;OTH_FEMALE_AF=0.068966;OTH_FEMALE_N_BI_GENOS=29;OTH_FEMALE_N_HOMREF=25;OTH_FEMALE_N_HET=4;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.862069;OTH_FEMALE_FREQ_HET=0.137931;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.086905 | |
| 367 1 553300 gnomAD-SV_v2.1_MCNV_1_7 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6> 999 MULTIALLELIC END=564400;SVTYPE=MCNV;SVLEN=11100;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=10847;AC=0,1691,8440,609,96,9,2;AF=0,0.155896,0.778095,0.056145,0.00885,0.00083,0.000184;MALE_AN=5528;MALE_AC=0,905,4270,292,54,6,1;MALE_AF=0,0.163712,0.772431,0.052822,0.009768,0.001085,0.000181;FEMALE_AN=5296;FEMALE_AC=0,783,4152,316,41,3,1;FEMALE_AF=0,0.147847,0.783988,0.059668,0.007742,0.000566,0.000189;AFR_AN=4767;AFR_AC=0,1060,3417,222,58,8,2;AFR_AF=0,0.222362,0.716803,0.04657,0.012167,0.001678,0.00042;AFR_MALE_AN=2615;AFR_MALE_AC=0,603,1864,107,35,5,1;AFR_MALE_AF=0,0.230593,0.712811,0.040918,0.013384,0.001912,0.000382;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=0,456,1548,115,23,3,1;AFR_FEMALE_AF=0,0.212488,0.721342,0.053588,0.010718,0.001398,0.000466;AMR_AN=965;AMR_AC=0,68,802,87,8,0,0;AMR_AF=0,0.070466,0.831088,0.090155,0.00829,0,0;AMR_MALE_AN=480;AMR_MALE_AC=0,35,396,45,4,0,0;AMR_MALE_AF=0,0.072917,0.825,0.09375,0.008333,0,0;AMR_FEMALE_AN=481;AMR_FEMALE_AC=0,32,404,41,4,0,0;AMR_FEMALE_AF=0,0.066528,0.839917,0.085239,0.008316,0,0;EAS_AN=1208;EAS_AC=0,127,999,71,11,0,0;EAS_AF=0,0.105132,0.826987,0.058775,0.009106,0,0;EAS_MALE_AN=694;EAS_MALE_AC=0,70,578,40,6,0,0;EAS_MALE_AF=0,0.100865,0.832853,0.057637,0.008646,0,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=0,57,418,31,4,0,0;EAS_FEMALE_AF=0,0.111765,0.819608,0.060784,0.007843,0,0;EUR_AN=3812;EUR_AC=0,426,3141,225,19,1,0;EUR_AF=0,0.111752,0.823977,0.059024,0.004984,0.000262,0;EUR_MALE_AN=1701;EUR_MALE_AC=0,194,1399,98,9,1,0;EUR_MALE_AF=0,0.114051,0.822457,0.057613,0.005291,0.000588,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=0,231,1734,127,10,0,0;EUR_FEMALE_AF=0,0.109895,0.824929,0.060419,0.004757,0,0;OTH_AN=95;OTH_AC=0,10,81,4,0,0,0;OTH_AF=0,0.105263,0.852632,0.042105,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,3,33,2,0,0,0;OTH_MALE_AF=0,0.078947,0.868421,0.052632,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,7,48,2,0,0,0;OTH_FEMALE_AF=0,0.122807,0.842105,0.035088,0,0,0 | |
| 368 1 560250 gnomAD-SV_v2.1_MCNV_1_8 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7>,<CN=8>,<CN=9>,<CN=10>,<CN=11>,<CN=12>,<CN=13>,<CN=14>,<CN=15>,<CN=16>,<CN=17>,<CN=18>,<CN=19>,<CN=20> 999 MULTIALLELIC END=570600;SVTYPE=MCNV;SVLEN=10350;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=10847;AC=0,552,2440,3564,2409,1130,417,150,88,43,25,7,6,6,5,2,0,1,1,0,1;AF=0,0.05089,0.224947,0.32857,0.222089,0.104176,0.038444,0.013829,0.008113,0.003964,0.002305,0.000645,0.000553,0.000553,0.000461,0.000184,0,9.2e-05,9.2e-05,0,9.2e-05;MALE_AN=5528;MALE_AC=0,302,1316,1846,1187,529,198,66,48,16,6,4,3,2,3,0,0,1,0,0,1;MALE_AF=0,0.054631,0.238061,0.333936,0.214725,0.095695,0.035818,0.011939,0.008683,0.002894,0.001085,0.000724,0.000543,0.000362,0.000543,0,0,0.000181,0,0,0.000181;FEMALE_AN=5296;FEMALE_AC=0,249,1118,1710,1218,600,218,83,40,26,19,3,3,4,2,2,0,0,1,0,0;FEMALE_AF=0,0.047017,0.211103,0.322885,0.229985,0.113293,0.041163,0.015672,0.007553,0.004909,0.003588,0.000566,0.000566,0.000755,0.000378,0.000378,0,0,0.000189,0,0;AFR_AN=4767;AFR_AC=0,325,889,1288,1008,667,310,134,77,33,20,5,5,3,2,1,0,0,0,0,0;AFR_AF=0,0.068177,0.18649,0.270191,0.211454,0.13992,0.06503,0.02811,0.016153,0.006923,0.004196,0.001049,0.001049,0.000629,0.00042,0.00021,0,0,0,0,0;AFR_MALE_AN=2615;AFR_MALE_AC=0,191,515,761,547,320,156,59,42,14,4,3,2,0,1,0,0,0,0,0,0;AFR_MALE_AF=0,0.07304,0.196941,0.291013,0.209178,0.122371,0.059656,0.022562,0.016061,0.005354,0.00153,0.001147,0.000765,0,0.000382,0,0,0,0,0,0;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=0,134,373,524,460,347,154,74,35,19,16,2,3,3,1,1,0,0,0,0,0;AFR_FEMALE_AF=0,0.062442,0.173812,0.244175,0.214352,0.161696,0.071761,0.034483,0.016309,0.008854,0.007456,0.000932,0.001398,0.001398,0.000466,0.000466,0,0,0,0,0;AMR_AN=965;AMR_AC=0,31,190,356,236,102,18,5,7,5,4,2,1,2,2,1,0,1,1,0,1;AMR_AF=0,0.032124,0.196891,0.368912,0.24456,0.105699,0.018653,0.005181,0.007254,0.005181,0.004145,0.002073,0.001036,0.002073,0.002073,0.001036,0,0.001036,0.001036,0,0.001036;AMR_MALE_AN=480;AMR_MALE_AC=0,19,102,174,104,52,11,1,5,2,2,1,1,2,2,0,0,1,0,0,1;AMR_MALE_AF=0,0.039583,0.2125,0.3625,0.216667,0.108333,0.022917,0.002083,0.010417,0.004167,0.004167,0.002083,0.002083,0.004167,0.004167,0,0,0.002083,0,0,0.002083;AMR_FEMALE_AN=481;AMR_FEMALE_AC=0,11,88,181,132,49,7,4,2,2,2,1,0,0,0,1,0,0,1,0,0;AMR_FEMALE_AF=0,0.022869,0.182952,0.376299,0.274428,0.101871,0.014553,0.008316,0.004158,0.004158,0.004158,0.002079,0,0,0,0.002079,0,0,0.002079,0,0;EAS_AN=1208;EAS_AC=0,65,439,458,188,47,10,1,0,0,0,0,0,0,0,0,0,0,0,0,0;EAS_AF=0,0.053808,0.363411,0.379139,0.155629,0.038907,0.008278,0.000828,0,0,0,0,0,0,0,0,0,0,0,0,0;EAS_MALE_AN=694;EAS_MALE_AC=0,37,274,248,110,21,3,1,0,0,0,0,0,0,0,0,0,0,0,0,0;EAS_MALE_AF=0,0.053314,0.394813,0.357349,0.158501,0.030259,0.004323,0.001441,0,0,0,0,0,0,0,0,0,0,0,0,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=0,28,163,209,78,26,6,0,0,0,0,0,0,0,0,0,0,0,0,0,0;EAS_FEMALE_AF=0,0.054902,0.319608,0.409804,0.152941,0.05098,0.011765,0,0,0,0,0,0,0,0,0,0,0,0,0,0;EUR_AN=3812;EUR_AC=0,125,902,1433,955,302,78,10,3,3,0,0,0,0,1,0,0,0,0,0,0;EUR_AF=0,0.032791,0.236621,0.375918,0.250525,0.079224,0.020462,0.002623,0.000787,0.000787,0,0,0,0,0.000262,0,0,0,0,0,0;EUR_MALE_AN=1701;EUR_MALE_AC=0,53,417,649,415,133,28,5,1,0,0,0,0,0,0,0,0,0,0,0,0;EUR_MALE_AF=0,0.031158,0.24515,0.38154,0.243974,0.078189,0.016461,0.002939,0.000588,0,0,0,0,0,0,0,0,0,0,0,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=0,72,482,781,537,169,50,5,2,3,0,0,0,0,1,0,0,0,0,0,0;EUR_FEMALE_AF=0,0.034253,0.229305,0.371551,0.255471,0.0804,0.023787,0.002379,0.000951,0.001427,0,0,0,0,0.000476,0,0,0,0,0,0;OTH_AN=95;OTH_AC=0,6,20,29,22,12,1,0,1,2,1,0,0,1,0,0,0,0,0,0,0;OTH_AF=0,0.063158,0.210526,0.305263,0.231579,0.126316,0.010526,0,0.010526,0.021053,0.010526,0,0,0.010526,0,0,0,0,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,2,8,14,11,3,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0;OTH_MALE_AF=0,0.052632,0.210526,0.368421,0.289474,0.078947,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,4,12,15,11,9,1,0,1,2,1,0,0,1,0,0,0,0,0,0,0;OTH_FEMALE_AF=0,0.070175,0.210526,0.263158,0.192982,0.157895,0.017544,0,0.017544,0.035088,0.017544,0,0,0.017544,0,0,0,0,0,0,0 | |
| 369 1 570000 gnomAD-SV_v2.1_DUP_1_24 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=580000;SVTYPE=DUP;SVLEN=10000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=12240;AC=773;AF=0.063154;N_BI_GENOS=6120;N_HOMREF=5422;N_HET=623;N_HOMALT=75;FREQ_HOMREF=0.885948;FREQ_HET=0.101797;FREQ_HOMALT=0.0122549;MALE_AN=6126;MALE_AC=408;MALE_AF=0.066601;MALE_N_BI_GENOS=3063;MALE_N_HOMREF=2698;MALE_N_HET=322;MALE_N_HOMALT=43;MALE_FREQ_HOMREF=0.880836;MALE_FREQ_HET=0.105126;MALE_FREQ_HOMALT=0.0140385;FEMALE_AN=6088;FEMALE_AC=364;FEMALE_AF=0.05979;FEMALE_N_BI_GENOS=3044;FEMALE_N_HOMREF=2712;FEMALE_N_HET=300;FEMALE_N_HOMALT=32;FEMALE_FREQ_HOMREF=0.890933;FEMALE_FREQ_HET=0.0985545;FEMALE_FREQ_HOMALT=0.0105125;AFR_AN=5366;AFR_AC=610;AFR_AF=0.113679;AFR_N_BI_GENOS=2683;AFR_N_HOMREF=2144;AFR_N_HET=468;AFR_N_HOMALT=71;AFR_FREQ_HOMREF=0.799105;AFR_FREQ_HET=0.174432;AFR_FREQ_HOMALT=0.0264629;AFR_MALE_AN=2848;AFR_MALE_AC=332;AFR_MALE_AF=0.116573;AFR_MALE_N_BI_GENOS=1424;AFR_MALE_N_HOMREF=1133;AFR_MALE_N_HET=250;AFR_MALE_N_HOMALT=41;AFR_MALE_FREQ_HOMREF=0.795646;AFR_MALE_FREQ_HET=0.175562;AFR_MALE_FREQ_HOMALT=0.0287921;AFR_FEMALE_AN=2512;AFR_FEMALE_AC=278;AFR_FEMALE_AF=0.110669;AFR_FEMALE_N_BI_GENOS=1256;AFR_FEMALE_N_HOMREF=1008;AFR_FEMALE_N_HET=218;AFR_FEMALE_N_HOMALT=30;AFR_FEMALE_FREQ_HOMREF=0.802548;AFR_FEMALE_FREQ_HET=0.173567;AFR_FEMALE_FREQ_HOMALT=0.0238854;AMR_AN=876;AMR_AC=24;AMR_AF=0.027397;AMR_N_BI_GENOS=438;AMR_N_HOMREF=414;AMR_N_HET=24;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.945205;AMR_FREQ_HET=0.0547945;AMR_FREQ_HOMALT=0;AMR_MALE_AN=416;AMR_MALE_AC=7;AMR_MALE_AF=0.016827;AMR_MALE_N_BI_GENOS=208;AMR_MALE_N_HOMREF=201;AMR_MALE_N_HET=7;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.966346;AMR_MALE_FREQ_HET=0.0336538;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=458;AMR_FEMALE_AC=17;AMR_FEMALE_AF=0.037118;AMR_FEMALE_N_BI_GENOS=229;AMR_FEMALE_N_HOMREF=212;AMR_FEMALE_N_HET=17;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.925764;AMR_FEMALE_FREQ_HET=0.0742358;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1360;EAS_AC=51;EAS_AF=0.0375;EAS_N_BI_GENOS=680;EAS_N_HOMREF=631;EAS_N_HET=47;EAS_N_HOMALT=2;EAS_FREQ_HOMREF=0.927941;EAS_FREQ_HET=0.0691177;EAS_FREQ_HOMALT=0.00294118;EAS_MALE_AN=790;EAS_MALE_AC=27;EAS_MALE_AF=0.034177;EAS_MALE_N_BI_GENOS=395;EAS_MALE_N_HOMREF=369;EAS_MALE_N_HET=25;EAS_MALE_N_HOMALT=1;EAS_MALE_FREQ_HOMREF=0.934177;EAS_MALE_FREQ_HET=0.0632911;EAS_MALE_FREQ_HOMALT=0.00253165;EAS_FEMALE_AN=564;EAS_FEMALE_AC=23;EAS_FEMALE_AF=0.04078;EAS_FEMALE_N_BI_GENOS=282;EAS_FEMALE_N_HOMREF=260;EAS_FEMALE_N_HET=21;EAS_FEMALE_N_HOMALT=1;EAS_FEMALE_FREQ_HOMREF=0.921986;EAS_FEMALE_FREQ_HET=0.0744681;EAS_FEMALE_FREQ_HOMALT=0.0035461;EUR_AN=4488;EUR_AC=85;EUR_AF=0.018939;EUR_N_BI_GENOS=2244;EUR_N_HOMREF=2161;EUR_N_HET=81;EUR_N_HOMALT=2;EUR_FREQ_HOMREF=0.963012;EUR_FREQ_HET=0.0360963;EUR_FREQ_HOMALT=0.000891266;EUR_MALE_AN=2014;EUR_MALE_AC=40;EUR_MALE_AF=0.019861;EUR_MALE_N_BI_GENOS=1007;EUR_MALE_N_HOMREF=968;EUR_MALE_N_HET=38;EUR_MALE_N_HOMALT=1;EUR_MALE_FREQ_HOMREF=0.961271;EUR_MALE_FREQ_HET=0.0377358;EUR_MALE_FREQ_HOMALT=0.000993049;EUR_FEMALE_AN=2462;EUR_FEMALE_AC=45;EUR_FEMALE_AF=0.018278;EUR_FEMALE_N_BI_GENOS=1231;EUR_FEMALE_N_HOMREF=1187;EUR_FEMALE_N_HET=43;EUR_FEMALE_N_HOMALT=1;EUR_FEMALE_FREQ_HOMREF=0.964257;EUR_FEMALE_FREQ_HET=0.034931;EUR_FEMALE_FREQ_HOMALT=0.000812348;OTH_AN=150;OTH_AC=3;OTH_AF=0.02;OTH_N_BI_GENOS=75;OTH_N_HOMREF=72;OTH_N_HET=3;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.96;OTH_FREQ_HET=0.04;OTH_FREQ_HOMALT=0;OTH_MALE_AN=58;OTH_MALE_AC=2;OTH_MALE_AF=0.034483;OTH_MALE_N_BI_GENOS=29;OTH_MALE_N_HOMREF=27;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.931035;OTH_MALE_FREQ_HET=0.0689655;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=92;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.01087;OTH_FEMALE_N_BI_GENOS=46;OTH_FEMALE_N_HOMREF=45;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.978261;OTH_FEMALE_FREQ_HET=0.0217391;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.113679 | |
| 370 1 570000 gnomAD-SV_v2.1_DUP_1_25 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=593000;SVTYPE=DUP;SVLEN=23000;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=15320;AC=562;AF=0.036684;N_BI_GENOS=7660;N_HOMREF=7158;N_HET=442;N_HOMALT=60;FREQ_HOMREF=0.934465;FREQ_HET=0.0577024;FREQ_HOMALT=0.0078329;MALE_AN=7730;MALE_AC=283;MALE_AF=0.036611;MALE_N_BI_GENOS=3865;MALE_N_HOMREF=3615;MALE_N_HET=217;MALE_N_HOMALT=33;MALE_FREQ_HOMREF=0.935317;MALE_FREQ_HET=0.0561449;MALE_FREQ_HOMALT=0.00853816;FEMALE_AN=7564;FEMALE_AC=277;FEMALE_AF=0.036621;FEMALE_N_BI_GENOS=3782;FEMALE_N_HOMREF=3531;FEMALE_N_HET=225;FEMALE_N_HOMALT=26;FEMALE_FREQ_HOMREF=0.933633;FEMALE_FREQ_HET=0.0594923;FEMALE_FREQ_HOMALT=0.00687467;AFR_AN=6902;AFR_AC=329;AFR_AF=0.047667;AFR_N_BI_GENOS=3451;AFR_N_HOMREF=3176;AFR_N_HET=221;AFR_N_HOMALT=54;AFR_FREQ_HOMREF=0.920313;AFR_FREQ_HET=0.0640394;AFR_FREQ_HOMALT=0.0156476;AFR_MALE_AN=3770;AFR_MALE_AC=176;AFR_MALE_AF=0.046684;AFR_MALE_N_BI_GENOS=1885;AFR_MALE_N_HOMREF=1739;AFR_MALE_N_HET=116;AFR_MALE_N_HOMALT=30;AFR_MALE_FREQ_HOMREF=0.922546;AFR_MALE_FREQ_HET=0.0615385;AFR_MALE_FREQ_HOMALT=0.0159151;AFR_FEMALE_AN=3124;AFR_FEMALE_AC=153;AFR_FEMALE_AF=0.048976;AFR_FEMALE_N_BI_GENOS=1562;AFR_FEMALE_N_HOMREF=1433;AFR_FEMALE_N_HET=105;AFR_FEMALE_N_HOMALT=24;AFR_FEMALE_FREQ_HOMREF=0.917414;AFR_FEMALE_FREQ_HET=0.0672215;AFR_FEMALE_FREQ_HOMALT=0.0153649;AMR_AN=1036;AMR_AC=25;AMR_AF=0.024131;AMR_N_BI_GENOS=518;AMR_N_HOMREF=493;AMR_N_HET=25;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.951737;AMR_FREQ_HET=0.0482625;AMR_FREQ_HOMALT=0;AMR_MALE_AN=480;AMR_MALE_AC=7;AMR_MALE_AF=0.014583;AMR_MALE_N_BI_GENOS=240;AMR_MALE_N_HOMREF=233;AMR_MALE_N_HET=7;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.970833;AMR_MALE_FREQ_HET=0.0291667;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=554;AMR_FEMALE_AC=18;AMR_FEMALE_AF=0.032491;AMR_FEMALE_N_BI_GENOS=277;AMR_FEMALE_N_HOMREF=259;AMR_FEMALE_N_HET=18;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.935018;AMR_FEMALE_FREQ_HET=0.064982;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1736;EAS_AC=97;EAS_AF=0.055876;EAS_N_BI_GENOS=868;EAS_N_HOMREF=777;EAS_N_HET=85;EAS_N_HOMALT=6;EAS_FREQ_HOMREF=0.895161;EAS_FREQ_HET=0.0979263;EAS_FREQ_HOMALT=0.00691244;EAS_MALE_AN=978;EAS_MALE_AC=53;EAS_MALE_AF=0.054192;EAS_MALE_N_BI_GENOS=489;EAS_MALE_N_HOMREF=439;EAS_MALE_N_HET=47;EAS_MALE_N_HOMALT=3;EAS_MALE_FREQ_HOMREF=0.89775;EAS_MALE_FREQ_HET=0.0961145;EAS_MALE_FREQ_HOMALT=0.00613497;EAS_FEMALE_AN=752;EAS_FEMALE_AC=42;EAS_FEMALE_AF=0.055851;EAS_FEMALE_N_BI_GENOS=376;EAS_FEMALE_N_HOMREF=336;EAS_FEMALE_N_HET=38;EAS_FEMALE_N_HOMALT=2;EAS_FEMALE_FREQ_HOMREF=0.893617;EAS_FEMALE_FREQ_HET=0.101064;EAS_FEMALE_FREQ_HOMALT=0.00531915;EUR_AN=5514;EUR_AC=106;EUR_AF=0.019224;EUR_N_BI_GENOS=2757;EUR_N_HOMREF=2651;EUR_N_HET=106;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.961552;EUR_FREQ_HET=0.0384476;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2442;EUR_MALE_AC=45;EUR_MALE_AF=0.018428;EUR_MALE_N_BI_GENOS=1221;EUR_MALE_N_HOMREF=1176;EUR_MALE_N_HET=45;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.963145;EUR_MALE_FREQ_HET=0.036855;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3062;EUR_FEMALE_AC=61;EUR_FEMALE_AF=0.019922;EUR_FEMALE_N_BI_GENOS=1531;EUR_FEMALE_N_HOMREF=1470;EUR_FEMALE_N_HET=61;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.960157;EUR_FEMALE_FREQ_HET=0.0398432;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=132;OTH_AC=5;OTH_AF=0.037879;OTH_N_BI_GENOS=66;OTH_N_HOMREF=61;OTH_N_HET=5;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.924242;OTH_FREQ_HET=0.0757576;OTH_FREQ_HOMALT=0;OTH_MALE_AN=60;OTH_MALE_AC=2;OTH_MALE_AF=0.033333;OTH_MALE_N_BI_GENOS=30;OTH_MALE_N_HOMREF=28;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.933333;OTH_MALE_FREQ_HET=0.0666667;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=72;OTH_FEMALE_AC=3;OTH_FEMALE_AF=0.041667;OTH_FEMALE_N_BI_GENOS=36;OTH_FEMALE_N_HOMREF=33;OTH_FEMALE_N_HET=3;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.916667;OTH_FEMALE_FREQ_HET=0.0833333;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.055876 | |
| 371 1 571750 gnomAD-SV_v2.1_DEL_1_28 N <DEL> 999 PASS END=585025;SVTYPE=DEL;SVLEN=13275;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21694;AC=3525;AF=0.162487;N_BI_GENOS=10847;N_HOMREF=7324;N_HET=3521;N_HOMALT=2;FREQ_HOMREF=0.67521;FREQ_HET=0.324606;FREQ_HOMALT=0.000184383;MALE_AN=11056;MALE_AC=1857;MALE_AF=0.167963;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=3672;MALE_N_HET=1855;MALE_N_HOMALT=1;MALE_FREQ_HOMREF=0.664255;MALE_FREQ_HET=0.335564;MALE_FREQ_HOMALT=0.000180897;FEMALE_AN=10592;FEMALE_AC=1662;FEMALE_AF=0.156911;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=3635;FEMALE_N_HET=1660;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.686367;FEMALE_FREQ_HET=0.313444;FEMALE_FREQ_HOMALT=0.000188822;AFR_AN=9534;AFR_AC=2126;AFR_AF=0.222991;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=2641;AFR_N_HET=2126;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.554017;AFR_FREQ_HET=0.445983;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=1186;AFR_MALE_AF=0.226769;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=1429;AFR_MALE_N_HET=1186;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.546463;AFR_MALE_FREQ_HET=0.453537;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=938;AFR_FEMALE_AF=0.218546;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=1208;AFR_FEMALE_N_HET=938;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.562908;AFR_FEMALE_FREQ_HET=0.437092;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=204;AMR_AF=0.105699;AMR_N_BI_GENOS=965;AMR_N_HOMREF=761;AMR_N_HET=204;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.788601;AMR_FREQ_HET=0.211399;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=106;AMR_MALE_AF=0.110417;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=374;AMR_MALE_N_HET=106;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.779167;AMR_MALE_FREQ_HET=0.220833;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=97;AMR_FEMALE_AF=0.100832;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=384;AMR_FEMALE_N_HET=97;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.798337;AMR_FEMALE_FREQ_HET=0.201663;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=318;EAS_AF=0.131623;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=890;EAS_N_HET=318;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.736755;EAS_FREQ_HET=0.263245;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=179;EAS_MALE_AF=0.128963;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=515;EAS_MALE_N_HET=179;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.742075;EAS_MALE_FREQ_HET=0.257925;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=138;EAS_FEMALE_AF=0.135294;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=372;EAS_FEMALE_N_HET=138;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.729412;EAS_FEMALE_FREQ_HET=0.270588;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=849;EUR_AF=0.111359;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=2965;EUR_N_HET=845;EUR_N_HOMALT=2;EUR_FREQ_HOMREF=0.777807;EUR_FREQ_HET=0.221668;EUR_FREQ_HOMALT=0.000524659;EUR_MALE_AN=3402;EUR_MALE_AC=372;EUR_MALE_AF=0.109347;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1330;EUR_MALE_N_HET=370;EUR_MALE_N_HOMALT=1;EUR_MALE_FREQ_HOMREF=0.781893;EUR_MALE_FREQ_HET=0.217519;EUR_MALE_FREQ_HOMALT=0.000587889;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=475;EUR_FEMALE_AF=0.112988;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=1628;EUR_FEMALE_N_HET=473;EUR_FEMALE_N_HOMALT=1;EUR_FEMALE_FREQ_HOMREF=0.7745;EUR_FEMALE_FREQ_HET=0.225024;EUR_FEMALE_FREQ_HOMALT=0.000475737;OTH_AN=190;OTH_AC=28;OTH_AF=0.147368;OTH_N_BI_GENOS=95;OTH_N_HOMREF=67;OTH_N_HET=28;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.705263;OTH_FREQ_HET=0.294737;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=14;OTH_MALE_AF=0.184211;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=24;OTH_MALE_N_HET=14;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.631579;OTH_MALE_FREQ_HET=0.368421;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=14;OTH_FEMALE_AF=0.122807;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=43;OTH_FEMALE_N_HET=14;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.754386;OTH_FEMALE_FREQ_HET=0.245614;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.222991 | |
| 372 1 574750 gnomAD-SV_v2.1_DEL_1_29 N <DEL> 999 PASS END=581950;SVTYPE=DEL;SVLEN=7200;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=19644;AC=534;AF=0.027184;N_BI_GENOS=9822;N_HOMREF=9288;N_HET=534;N_HOMALT=0;FREQ_HOMREF=0.945632;FREQ_HET=0.0543677;FREQ_HOMALT=0;MALE_AN=10012;MALE_AC=271;MALE_AF=0.027068;MALE_N_BI_GENOS=5006;MALE_N_HOMREF=4735;MALE_N_HET=271;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.945865;MALE_FREQ_HET=0.054135;MALE_FREQ_HOMALT=0;FEMALE_AN=9588;FEMALE_AC=261;FEMALE_AF=0.027222;FEMALE_N_BI_GENOS=4794;FEMALE_N_HOMREF=4533;FEMALE_N_HET=261;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.945557;FEMALE_FREQ_HET=0.0544431;FEMALE_FREQ_HOMALT=0;AFR_AN=8928;AFR_AC=178;AFR_AF=0.019937;AFR_N_BI_GENOS=4464;AFR_N_HOMREF=4286;AFR_N_HET=178;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.960125;AFR_FREQ_HET=0.0398746;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4896;AFR_MALE_AC=106;AFR_MALE_AF=0.02165;AFR_MALE_N_BI_GENOS=2448;AFR_MALE_N_HOMREF=2342;AFR_MALE_N_HET=106;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.956699;AFR_MALE_FREQ_HET=0.0433007;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4020;AFR_FEMALE_AC=72;AFR_FEMALE_AF=0.01791;AFR_FEMALE_N_BI_GENOS=2010;AFR_FEMALE_N_HOMREF=1938;AFR_FEMALE_N_HET=72;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.964179;AFR_FEMALE_FREQ_HET=0.0358209;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1698;AMR_AC=40;AMR_AF=0.023557;AMR_N_BI_GENOS=849;AMR_N_HOMREF=809;AMR_N_HET=40;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.952886;AMR_FREQ_HET=0.0471143;AMR_FREQ_HOMALT=0;AMR_MALE_AN=838;AMR_MALE_AC=21;AMR_MALE_AF=0.02506;AMR_MALE_N_BI_GENOS=419;AMR_MALE_N_HOMREF=398;AMR_MALE_N_HET=21;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.949881;AMR_MALE_FREQ_HET=0.0501193;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=852;AMR_FEMALE_AC=18;AMR_FEMALE_AF=0.021127;AMR_FEMALE_N_BI_GENOS=426;AMR_FEMALE_N_HOMREF=408;AMR_FEMALE_N_HET=18;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.957747;AMR_FEMALE_FREQ_HET=0.0422535;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2158;EAS_AC=66;EAS_AF=0.030584;EAS_N_BI_GENOS=1079;EAS_N_HOMREF=1013;EAS_N_HET=66;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.938832;EAS_FREQ_HET=0.0611677;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1248;EAS_MALE_AC=42;EAS_MALE_AF=0.033654;EAS_MALE_N_BI_GENOS=624;EAS_MALE_N_HOMREF=582;EAS_MALE_N_HET=42;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.932692;EAS_MALE_FREQ_HET=0.0673077;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=902;EAS_FEMALE_AC=24;EAS_FEMALE_AF=0.026608;EAS_FEMALE_N_BI_GENOS=451;EAS_FEMALE_N_HOMREF=427;EAS_FEMALE_N_HET=24;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.946785;EAS_FEMALE_FREQ_HET=0.0532151;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6682;EUR_AC=245;EUR_AF=0.036666;EUR_N_BI_GENOS=3341;EUR_N_HOMREF=3096;EUR_N_HET=245;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.926669;EUR_FREQ_HET=0.0733313;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2958;EUR_MALE_AC=100;EUR_MALE_AF=0.033807;EUR_MALE_N_BI_GENOS=1479;EUR_MALE_N_HOMREF=1379;EUR_MALE_N_HET=100;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.932387;EUR_MALE_FREQ_HET=0.0676133;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3708;EUR_FEMALE_AC=144;EUR_FEMALE_AF=0.038835;EUR_FEMALE_N_BI_GENOS=1854;EUR_FEMALE_N_HOMREF=1710;EUR_FEMALE_N_HET=144;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.92233;EUR_FEMALE_FREQ_HET=0.0776699;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=178;OTH_AC=5;OTH_AF=0.02809;OTH_N_BI_GENOS=89;OTH_N_HOMREF=84;OTH_N_HET=5;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.94382;OTH_FREQ_HET=0.0561798;OTH_FREQ_HOMALT=0;OTH_MALE_AN=72;OTH_MALE_AC=2;OTH_MALE_AF=0.027778;OTH_MALE_N_BI_GENOS=36;OTH_MALE_N_HOMREF=34;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.944444;OTH_MALE_FREQ_HET=0.0555556;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=106;OTH_FEMALE_AC=3;OTH_FEMALE_AF=0.028302;OTH_FEMALE_N_BI_GENOS=53;OTH_FEMALE_N_HOMREF=50;OTH_FEMALE_N_HET=3;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.943396;OTH_FEMALE_FREQ_HET=0.0566038;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.036666 | |
| 373 1 582700 gnomAD-SV_v2.1_DUP_1_26 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=593000;SVTYPE=DUP;SVLEN=10300;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=12548;AC=639;AF=0.050924;N_BI_GENOS=6274;N_HOMREF=5674;N_HET=561;N_HOMALT=39;FREQ_HOMREF=0.904367;FREQ_HET=0.0894166;FREQ_HOMALT=0.00621613;MALE_AN=6286;MALE_AC=348;MALE_AF=0.055361;MALE_N_BI_GENOS=3143;MALE_N_HOMREF=2819;MALE_N_HET=300;MALE_N_HOMALT=24;MALE_FREQ_HOMREF=0.896914;MALE_FREQ_HET=0.0954502;MALE_FREQ_HOMALT=0.00763602;FEMALE_AN=6242;FEMALE_AC=291;FEMALE_AF=0.04662;FEMALE_N_BI_GENOS=3121;FEMALE_N_HOMREF=2845;FEMALE_N_HET=261;FEMALE_N_HOMALT=15;FEMALE_FREQ_HOMREF=0.911567;FEMALE_FREQ_HET=0.083627;FEMALE_FREQ_HOMALT=0.00480615;AFR_AN=5356;AFR_AC=581;AFR_AF=0.108476;AFR_N_BI_GENOS=2678;AFR_N_HOMREF=2136;AFR_N_HET=503;AFR_N_HOMALT=39;AFR_FREQ_HOMREF=0.79761;AFR_FREQ_HET=0.187827;AFR_FREQ_HOMALT=0.0145631;AFR_MALE_AN=2906;AFR_MALE_AC=320;AFR_MALE_AF=0.110117;AFR_MALE_N_BI_GENOS=1453;AFR_MALE_N_HOMREF=1157;AFR_MALE_N_HET=272;AFR_MALE_N_HOMALT=24;AFR_MALE_FREQ_HOMREF=0.796284;AFR_MALE_FREQ_HET=0.187199;AFR_MALE_FREQ_HOMALT=0.0165175;AFR_FEMALE_AN=2444;AFR_FEMALE_AC=261;AFR_FEMALE_AF=0.106792;AFR_FEMALE_N_BI_GENOS=1222;AFR_FEMALE_N_HOMREF=976;AFR_FEMALE_N_HET=231;AFR_FEMALE_N_HOMALT=15;AFR_FEMALE_FREQ_HOMREF=0.798691;AFR_FEMALE_FREQ_HET=0.189034;AFR_FEMALE_FREQ_HOMALT=0.012275;AMR_AN=986;AMR_AC=10;AMR_AF=0.010142;AMR_N_BI_GENOS=493;AMR_N_HOMREF=483;AMR_N_HET=10;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.979716;AMR_FREQ_HET=0.020284;AMR_FREQ_HOMALT=0;AMR_MALE_AN=472;AMR_MALE_AC=1;AMR_MALE_AF=0.002119;AMR_MALE_N_BI_GENOS=236;AMR_MALE_N_HOMREF=235;AMR_MALE_N_HET=1;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.995763;AMR_MALE_FREQ_HET=0.00423729;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=512;AMR_FEMALE_AC=9;AMR_FEMALE_AF=0.017578;AMR_FEMALE_N_BI_GENOS=256;AMR_FEMALE_N_HOMREF=247;AMR_FEMALE_N_HET=9;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.964844;AMR_FEMALE_FREQ_HET=0.0351563;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1426;EAS_AC=30;EAS_AF=0.021038;EAS_N_BI_GENOS=713;EAS_N_HOMREF=683;EAS_N_HET=30;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.957924;EAS_FREQ_HET=0.0420757;EAS_FREQ_HOMALT=0;EAS_MALE_AN=808;EAS_MALE_AC=19;EAS_MALE_AF=0.023515;EAS_MALE_N_BI_GENOS=404;EAS_MALE_N_HOMREF=385;EAS_MALE_N_HET=19;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.95297;EAS_MALE_FREQ_HET=0.0470297;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=614;EAS_FEMALE_AC=11;EAS_FEMALE_AF=0.017915;EAS_FEMALE_N_BI_GENOS=307;EAS_FEMALE_N_HOMREF=296;EAS_FEMALE_N_HET=11;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.964169;EAS_FEMALE_FREQ_HET=0.0358306;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=4662;EUR_AC=17;EUR_AF=0.003647;EUR_N_BI_GENOS=2331;EUR_N_HOMREF=2314;EUR_N_HET=17;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.992707;EUR_FREQ_HET=0.00729301;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2058;EUR_MALE_AC=7;EUR_MALE_AF=0.003401;EUR_MALE_N_BI_GENOS=1029;EUR_MALE_N_HOMREF=1022;EUR_MALE_N_HET=7;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.993197;EUR_MALE_FREQ_HET=0.00680272;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2596;EUR_FEMALE_AC=10;EUR_FEMALE_AF=0.003852;EUR_FEMALE_N_BI_GENOS=1298;EUR_FEMALE_N_HOMREF=1288;EUR_FEMALE_N_HET=10;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.992296;EUR_FEMALE_FREQ_HET=0.00770416;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=118;OTH_AC=1;OTH_AF=0.008475;OTH_N_BI_GENOS=59;OTH_N_HOMREF=58;OTH_N_HET=1;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.983051;OTH_FREQ_HET=0.0169492;OTH_FREQ_HOMALT=0;OTH_MALE_AN=42;OTH_MALE_AC=1;OTH_MALE_AF=0.02381;OTH_MALE_N_BI_GENOS=21;OTH_MALE_N_HOMREF=20;OTH_MALE_N_HET=1;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.952381;OTH_MALE_FREQ_HET=0.047619;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=76;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=38;OTH_FEMALE_N_HOMREF=38;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.108476 | |
| 374 1 591100 gnomAD-SV_v2.1_DEL_1_30 N <DEL> 999 LOW_CALL_RATE END=596200;SVTYPE=DEL;SVLEN=5100;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=17624;AC=366;AF=0.020767;N_BI_GENOS=8812;N_HOMREF=8446;N_HET=366;N_HOMALT=0;FREQ_HOMREF=0.958466;FREQ_HET=0.0415343;FREQ_HOMALT=0;MALE_AN=8968;MALE_AC=176;MALE_AF=0.019625;MALE_N_BI_GENOS=4484;MALE_N_HOMREF=4308;MALE_N_HET=176;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.960749;MALE_FREQ_HET=0.0392507;MALE_FREQ_HOMALT=0;FEMALE_AN=8626;FEMALE_AC=190;FEMALE_AF=0.022026;FEMALE_N_BI_GENOS=4313;FEMALE_N_HOMREF=4123;FEMALE_N_HET=190;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.955947;FEMALE_FREQ_HET=0.0440529;FEMALE_FREQ_HOMALT=0;AFR_AN=7896;AFR_AC=66;AFR_AF=0.008359;AFR_N_BI_GENOS=3948;AFR_N_HOMREF=3882;AFR_N_HET=66;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.983283;AFR_FREQ_HET=0.0167173;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4352;AFR_MALE_AC=36;AFR_MALE_AF=0.008272;AFR_MALE_N_BI_GENOS=2176;AFR_MALE_N_HOMREF=2140;AFR_MALE_N_HET=36;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.983456;AFR_MALE_FREQ_HET=0.0165441;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3534;AFR_FEMALE_AC=30;AFR_FEMALE_AF=0.008489;AFR_FEMALE_N_BI_GENOS=1767;AFR_FEMALE_N_HOMREF=1737;AFR_FEMALE_N_HET=30;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.983022;AFR_FEMALE_FREQ_HET=0.0169779;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1570;AMR_AC=39;AMR_AF=0.024841;AMR_N_BI_GENOS=785;AMR_N_HOMREF=746;AMR_N_HET=39;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.950318;AMR_FREQ_HET=0.0496815;AMR_FREQ_HOMALT=0;AMR_MALE_AN=758;AMR_MALE_AC=19;AMR_MALE_AF=0.025066;AMR_MALE_N_BI_GENOS=379;AMR_MALE_N_HOMREF=360;AMR_MALE_N_HET=19;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.949868;AMR_MALE_FREQ_HET=0.0501319;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=808;AMR_FEMALE_AC=20;AMR_FEMALE_AF=0.024752;AMR_FEMALE_N_BI_GENOS=404;AMR_FEMALE_N_HOMREF=384;AMR_FEMALE_N_HET=20;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.950495;AMR_FEMALE_FREQ_HET=0.049505;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1838;EAS_AC=68;EAS_AF=0.036997;EAS_N_BI_GENOS=919;EAS_N_HOMREF=851;EAS_N_HET=68;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.926007;EAS_FREQ_HET=0.0739935;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1076;EAS_MALE_AC=44;EAS_MALE_AF=0.040892;EAS_MALE_N_BI_GENOS=538;EAS_MALE_N_HOMREF=494;EAS_MALE_N_HET=44;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.918216;EAS_MALE_FREQ_HET=0.0817844;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=758;EAS_FEMALE_AC=24;EAS_FEMALE_AF=0.031662;EAS_FEMALE_N_BI_GENOS=379;EAS_FEMALE_N_HOMREF=355;EAS_FEMALE_N_HET=24;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.936675;EAS_FEMALE_FREQ_HET=0.0633245;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=6162;EUR_AC=191;EUR_AF=0.030996;EUR_N_BI_GENOS=3081;EUR_N_HOMREF=2890;EUR_N_HET=191;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.938007;EUR_FREQ_HET=0.0619929;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2720;EUR_MALE_AC=77;EUR_MALE_AF=0.028309;EUR_MALE_N_BI_GENOS=1360;EUR_MALE_N_HOMREF=1283;EUR_MALE_N_HET=77;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.943382;EUR_MALE_FREQ_HET=0.0566176;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3430;EUR_FEMALE_AC=114;EUR_FEMALE_AF=0.033236;EUR_FEMALE_N_BI_GENOS=1715;EUR_FEMALE_N_HOMREF=1601;EUR_FEMALE_N_HET=114;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.933528;EUR_FEMALE_FREQ_HET=0.0664723;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=158;OTH_AC=2;OTH_AF=0.012658;OTH_N_BI_GENOS=79;OTH_N_HOMREF=77;OTH_N_HET=2;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.974684;OTH_FREQ_HET=0.0253165;OTH_FREQ_HOMALT=0;OTH_MALE_AN=62;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=31;OTH_MALE_N_HOMREF=31;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=96;OTH_FEMALE_AC=2;OTH_FEMALE_AF=0.020833;OTH_FEMALE_N_BI_GENOS=48;OTH_FEMALE_N_HOMREF=46;OTH_FEMALE_N_HET=2;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.958333;OTH_FEMALE_FREQ_HET=0.0416667;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.036997 | |
| 375 1 598600 gnomAD-SV_v2.1_DUP_1_27 N <DUP> 999 UNSTABLE_AF_PCRMINUS;LOW_CALL_RATE END=605000;SVTYPE=DUP;SVLEN=6400;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=15764;AC=1171;AF=0.074283;N_BI_GENOS=7882;N_HOMREF=6854;N_HET=885;N_HOMALT=143;FREQ_HOMREF=0.869576;FREQ_HET=0.112281;FREQ_HOMALT=0.0181426;MALE_AN=7900;MALE_AC=610;MALE_AF=0.077215;MALE_N_BI_GENOS=3950;MALE_N_HOMREF=3418;MALE_N_HET=454;MALE_N_HOMALT=78;MALE_FREQ_HOMREF=0.865316;MALE_FREQ_HET=0.114937;MALE_FREQ_HOMALT=0.0197468;FEMALE_AN=7838;FEMALE_AC=560;FEMALE_AF=0.071447;FEMALE_N_BI_GENOS=3919;FEMALE_N_HOMREF=3424;FEMALE_N_HET=430;FEMALE_N_HOMALT=65;FEMALE_FREQ_HOMREF=0.873692;FEMALE_FREQ_HET=0.109722;FEMALE_FREQ_HOMALT=0.0165859;AFR_AN=6474;AFR_AC=812;AFR_AF=0.125425;AFR_N_BI_GENOS=3237;AFR_N_HOMREF=2553;AFR_N_HET=556;AFR_N_HOMALT=128;AFR_FREQ_HOMREF=0.788693;AFR_FREQ_HET=0.171764;AFR_FREQ_HOMALT=0.0395428;AFR_MALE_AN=3490;AFR_MALE_AC=435;AFR_MALE_AF=0.124642;AFR_MALE_N_BI_GENOS=1745;AFR_MALE_N_HOMREF=1380;AFR_MALE_N_HET=295;AFR_MALE_N_HOMALT=70;AFR_MALE_FREQ_HOMREF=0.790831;AFR_MALE_FREQ_HET=0.169054;AFR_MALE_FREQ_HOMALT=0.0401146;AFR_FEMALE_AN=2976;AFR_FEMALE_AC=376;AFR_FEMALE_AF=0.126344;AFR_FEMALE_N_BI_GENOS=1488;AFR_FEMALE_N_HOMREF=1170;AFR_FEMALE_N_HET=260;AFR_FEMALE_N_HOMALT=58;AFR_FEMALE_FREQ_HOMREF=0.78629;AFR_FEMALE_FREQ_HET=0.174731;AFR_FEMALE_FREQ_HOMALT=0.0389785;AMR_AN=1200;AMR_AC=48;AMR_AF=0.04;AMR_N_BI_GENOS=600;AMR_N_HOMREF=554;AMR_N_HET=44;AMR_N_HOMALT=2;AMR_FREQ_HOMREF=0.923333;AMR_FREQ_HET=0.0733333;AMR_FREQ_HOMALT=0.00333333;AMR_MALE_AN=572;AMR_MALE_AC=20;AMR_MALE_AF=0.034965;AMR_MALE_N_BI_GENOS=286;AMR_MALE_N_HOMREF=268;AMR_MALE_N_HET=16;AMR_MALE_N_HOMALT=2;AMR_MALE_FREQ_HOMREF=0.937063;AMR_MALE_FREQ_HET=0.0559441;AMR_MALE_FREQ_HOMALT=0.00699301;AMR_FEMALE_AN=626;AMR_FEMALE_AC=28;AMR_FEMALE_AF=0.044728;AMR_FEMALE_N_BI_GENOS=313;AMR_FEMALE_N_HOMREF=285;AMR_FEMALE_N_HET=28;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.910543;AMR_FEMALE_FREQ_HET=0.0894569;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1914;EAS_AC=122;EAS_AF=0.063741;EAS_N_BI_GENOS=957;EAS_N_HOMREF=845;EAS_N_HET=102;EAS_N_HOMALT=10;EAS_FREQ_HOMREF=0.882968;EAS_FREQ_HET=0.106583;EAS_FREQ_HOMALT=0.0104493;EAS_MALE_AN=1092;EAS_MALE_AC=70;EAS_MALE_AF=0.064103;EAS_MALE_N_BI_GENOS=546;EAS_MALE_N_HOMREF=481;EAS_MALE_N_HET=60;EAS_MALE_N_HOMALT=5;EAS_MALE_FREQ_HOMREF=0.880952;EAS_MALE_FREQ_HET=0.10989;EAS_MALE_FREQ_HOMALT=0.00915751;EAS_FEMALE_AN=820;EAS_FEMALE_AC=52;EAS_FEMALE_AF=0.063415;EAS_FEMALE_N_BI_GENOS=410;EAS_FEMALE_N_HOMREF=363;EAS_FEMALE_N_HET=42;EAS_FEMALE_N_HOMALT=5;EAS_FEMALE_FREQ_HOMREF=0.885366;EAS_FEMALE_FREQ_HET=0.102439;EAS_FEMALE_FREQ_HOMALT=0.0121951;EUR_AN=6024;EUR_AC=179;EUR_AF=0.029714;EUR_N_BI_GENOS=3012;EUR_N_HOMREF=2836;EUR_N_HET=173;EUR_N_HOMALT=3;EUR_FREQ_HOMREF=0.941567;EUR_FREQ_HET=0.0574369;EUR_FREQ_HOMALT=0.000996016;EUR_MALE_AN=2686;EUR_MALE_AC=83;EUR_MALE_AF=0.030901;EUR_MALE_N_BI_GENOS=1343;EUR_MALE_N_HOMREF=1261;EUR_MALE_N_HET=81;EUR_MALE_N_HOMALT=1;EUR_MALE_FREQ_HOMREF=0.938943;EUR_MALE_FREQ_HET=0.0603127;EUR_MALE_FREQ_HOMALT=0.000744602;EUR_FEMALE_AN=3324;EUR_FEMALE_AC=96;EUR_FEMALE_AF=0.028881;EUR_FEMALE_N_BI_GENOS=1662;EUR_FEMALE_N_HOMREF=1568;EUR_FEMALE_N_HET=92;EUR_FEMALE_N_HOMALT=2;EUR_FEMALE_FREQ_HOMREF=0.943442;EUR_FEMALE_FREQ_HET=0.055355;EUR_FEMALE_FREQ_HOMALT=0.00120337;OTH_AN=152;OTH_AC=10;OTH_AF=0.065789;OTH_N_BI_GENOS=76;OTH_N_HOMREF=66;OTH_N_HET=10;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.868421;OTH_FREQ_HET=0.131579;OTH_FREQ_HOMALT=0;OTH_MALE_AN=60;OTH_MALE_AC=2;OTH_MALE_AF=0.033333;OTH_MALE_N_BI_GENOS=30;OTH_MALE_N_HOMREF=28;OTH_MALE_N_HET=2;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.933333;OTH_MALE_FREQ_HET=0.0666667;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=92;OTH_FEMALE_AC=8;OTH_FEMALE_AF=0.086957;OTH_FEMALE_N_BI_GENOS=46;OTH_FEMALE_N_HOMREF=38;OTH_FEMALE_N_HET=8;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.826087;OTH_FEMALE_FREQ_HET=0.173913;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.125425 | |
| 376 1 599300 gnomAD-SV_v2.1_MCNV_1_9 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7> 999 MULTIALLELIC END=605250;SVTYPE=MCNV;SVLEN=5950;ALGORITHMS=depth;EVIDENCE=RD;PCRPLUS_DEPLETED;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=10307;AC=20,2884,6365,892,131,13,1,1;AF=0.00194,0.27981,0.617541,0.086543,0.01271,0.001261,9.7e-05,9.7e-05;MALE_AN=5222;MALE_AC=10,1493,3166,478,66,8,0,1;MALE_AF=0.001915,0.285906,0.606281,0.091536,0.012639,0.001532,0,0.000191;FEMALE_AN=5066;FEMALE_AC=10,1387,3186,413,64,5,1,0;FEMALE_AF=0.001974,0.273786,0.628899,0.081524,0.012633,0.000987,0.000197,0;AFR_AN=4543;AFR_AC=5,1387,2440,583,113,13,1,1;AFR_AF=0.001101,0.305305,0.53709,0.128329,0.024873,0.002862,0.00022,0.00022;AFR_MALE_AN=2480;AFR_MALE_AC=3,776,1303,331,58,8,0,1;AFR_MALE_AF=0.00121,0.312903,0.525403,0.133468,0.023387,0.003226,0,0.000403;AFR_FEMALE_AN=2059;AFR_FEMALE_AC=2,611,1134,251,55,5,1,0;AFR_FEMALE_AF=0.000971,0.296746,0.550753,0.121904,0.026712,0.002428,0.000486,0;AMR_AN=735;AMR_AC=3,175,514,39,4,0,0,0;AMR_AF=0.004082,0.238095,0.69932,0.053061,0.005442,0,0,0;AMR_MALE_AN=350;AMR_MALE_AC=2,92,239,14,3,0,0,0;AMR_MALE_AF=0.005714,0.262857,0.682857,0.04,0.008571,0,0,0;AMR_FEMALE_AN=383;AMR_FEMALE_AC=1,82,274,25,1,0,0,0;AMR_FEMALE_AF=0.002611,0.214099,0.715405,0.065274,0.002611,0,0,0;EAS_AN=1208;EAS_AC=3,351,745,100,9,0,0,0;EAS_AF=0.002483,0.290563,0.616722,0.082781,0.00745,0,0,0;EAS_MALE_AN=694;EAS_MALE_AC=1,203,426,61,3,0,0,0;EAS_MALE_AF=0.001441,0.292507,0.613833,0.087896,0.004323,0,0,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=2,147,317,39,5,0,0,0;EAS_FEMALE_AF=0.003922,0.288235,0.621569,0.076471,0.009804,0,0,0;EUR_AN=3726;EUR_AC=8,948,2604,162,4,0,0,0;EUR_AF=0.002147,0.254428,0.698873,0.043478,0.001074,0,0,0;EUR_MALE_AN=1660;EUR_MALE_AC=4,415,1169,71,1,0,0,0;EUR_MALE_AF=0.00241,0.25,0.704217,0.042771,0.000602,0,0,0;EUR_FEMALE_AN=2057;EUR_FEMALE_AC=4,531,1428,91,3,0,0,0;EUR_FEMALE_AF=0.001945,0.258143,0.694215,0.044239,0.001458,0,0,0;OTH_AN=95;OTH_AC=1,23,62,8,1,0,0,0;OTH_AF=0.010526,0.242105,0.652632,0.084211,0.010526,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,7,29,1,1,0,0,0;OTH_MALE_AF=0,0.184211,0.763158,0.026316,0.026316,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=1,16,33,7,0,0,0,0;OTH_FEMALE_AF=0.017544,0.280702,0.578947,0.122807,0,0,0,0 | |
| 377 1 603000 gnomAD-SV_v2.1_MCNV_1_10 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6> 999 MULTIALLELIC END=623000;SVTYPE=MCNV;SVLEN=20000;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__MSV_EXON_OVR=OR4F16;AN=10847;AC=340,4396,5984,91,33,2,1;AF=0.031345,0.405273,0.551673,0.008389,0.003042,0.000184,9.2e-05;MALE_AN=5528;MALE_AC=189,2282,2985,51,19,2,0;MALE_AF=0.03419,0.412808,0.539978,0.009226,0.003437,0.000362,0;FEMALE_AN=5296;FEMALE_AC=151,2107,2984,39,14,0,1;FEMALE_AF=0.028512,0.397847,0.563444,0.007364,0.002644,0,0.000189;AFR_AN=4767;AFR_AC=271,2427,1984,54,28,2,1;AFR_AF=0.056849,0.509125,0.416195,0.011328,0.005874,0.00042,0.00021;AFR_MALE_AN=2615;AFR_MALE_AC=152,1321,1095,29,16,2,0;AFR_MALE_AF=0.058126,0.505163,0.418738,0.01109,0.006119,0.000765,0;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=119,1105,884,25,12,0,1;AFR_FEMALE_AF=0.055452,0.514911,0.411929,0.01165,0.005592,0,0.000466;AMR_AN=965;AMR_AC=16,263,682,4,0,0,0;AMR_AF=0.01658,0.272539,0.706736,0.004145,0,0,0;AMR_MALE_AN=480;AMR_MALE_AC=8,141,328,3,0,0,0;AMR_MALE_AF=0.016667,0.29375,0.683333,0.00625,0,0,0;AMR_FEMALE_AN=481;AMR_FEMALE_AC=8,121,351,1,0,0,0;AMR_FEMALE_AF=0.016632,0.251559,0.72973,0.002079,0,0,0;EAS_AN=1208;EAS_AC=28,460,693,22,5,0,0;EAS_AF=0.023179,0.380795,0.573675,0.018212,0.004139,0,0;EAS_MALE_AN=694;EAS_MALE_AC=17,264,398,12,3,0,0;EAS_MALE_AF=0.024496,0.380403,0.573487,0.017291,0.004323,0,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=11,195,293,9,2,0,0;EAS_FEMALE_AF=0.021569,0.382353,0.57451,0.017647,0.003922,0,0;EUR_AN=3812;EUR_AC=25,1205,2572,10,0,0,0;EUR_AF=0.006558,0.316107,0.674711,0.002623,0,0,0;EUR_MALE_AN=1701;EUR_MALE_AC=12,540,1142,7,0,0,0;EUR_MALE_AF=0.007055,0.31746,0.67137,0.004115,0,0,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=13,661,1425,3,0,0,0;EUR_FEMALE_AF=0.006185,0.314462,0.677926,0.001427,0,0,0;OTH_AN=95;OTH_AC=0,41,53,1,0,0,0;OTH_AF=0,0.431579,0.557895,0.010526,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,16,22,0,0,0,0;OTH_MALE_AF=0,0.421053,0.578947,0,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,25,31,1,0,0,0;OTH_FEMALE_AF=0,0.438596,0.54386,0.017544,0,0,0 | |
| 378 1 603330 gnomAD-SV_v2.1_DEL_1_31 N <DEL> 187 PASS END=603403;SVTYPE=DEL;SVLEN=73;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;HIGH_SR_BACKGROUND;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21420;AC=630;AF=0.029412;N_BI_GENOS=10710;N_HOMREF=10081;N_HET=628;N_HOMALT=1;FREQ_HOMREF=0.94127;FREQ_HET=0.0586368;FREQ_HOMALT=9.33707e-05;MALE_AN=10894;MALE_AC=341;MALE_AF=0.031302;MALE_N_BI_GENOS=5447;MALE_N_HOMREF=5106;MALE_N_HET=341;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.937397;MALE_FREQ_HET=0.0626033;MALE_FREQ_HOMALT=0;FEMALE_AN=10480;FEMALE_AC=286;FEMALE_AF=0.02729;FEMALE_N_BI_GENOS=5240;FEMALE_N_HOMREF=4955;FEMALE_N_HET=284;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.945611;FEMALE_FREQ_HET=0.0541985;FEMALE_FREQ_HOMALT=0.00019084;AFR_AN=9400;AFR_AC=275;AFR_AF=0.029255;AFR_N_BI_GENOS=4700;AFR_N_HOMREF=4425;AFR_N_HET=275;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.941489;AFR_FREQ_HET=0.0585106;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5154;AFR_MALE_AC=141;AFR_MALE_AF=0.027357;AFR_MALE_N_BI_GENOS=2577;AFR_MALE_N_HOMREF=2436;AFR_MALE_N_HET=141;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.945285;AFR_MALE_FREQ_HET=0.0547148;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4234;AFR_FEMALE_AC=134;AFR_FEMALE_AF=0.031649;AFR_FEMALE_N_BI_GENOS=2117;AFR_FEMALE_N_HOMREF=1983;AFR_FEMALE_N_HET=134;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.936703;AFR_FEMALE_FREQ_HET=0.0632971;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1924;AMR_AC=7;AMR_AF=0.003638;AMR_N_BI_GENOS=962;AMR_N_HOMREF=955;AMR_N_HET=7;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.992723;AMR_FREQ_HET=0.00727651;AMR_FREQ_HOMALT=0;AMR_MALE_AN=956;AMR_MALE_AC=3;AMR_MALE_AF=0.003138;AMR_MALE_N_BI_GENOS=478;AMR_MALE_N_HOMREF=475;AMR_MALE_N_HET=3;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.993724;AMR_MALE_FREQ_HET=0.00627615;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=960;AMR_FEMALE_AC=4;AMR_FEMALE_AF=0.004167;AMR_FEMALE_N_BI_GENOS=480;AMR_FEMALE_N_HOMREF=476;AMR_FEMALE_N_HET=4;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.991667;AMR_FEMALE_FREQ_HET=0.00833333;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2312;EAS_AC=276;EAS_AF=0.119377;EAS_N_BI_GENOS=1156;EAS_N_HOMREF=881;EAS_N_HET=274;EAS_N_HOMALT=1;EAS_FREQ_HOMREF=0.762111;EAS_FREQ_HET=0.237024;EAS_FREQ_HOMALT=0.000865052;EAS_MALE_AN=1326;EAS_MALE_AC=166;EAS_MALE_AF=0.125189;EAS_MALE_N_BI_GENOS=663;EAS_MALE_N_HOMREF=497;EAS_MALE_N_HET=166;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.749623;EAS_MALE_FREQ_HET=0.250377;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=978;EAS_FEMALE_AC=108;EAS_FEMALE_AF=0.110429;EAS_FEMALE_N_BI_GENOS=489;EAS_FEMALE_N_HOMREF=382;EAS_FEMALE_N_HET=106;EAS_FEMALE_N_HOMALT=1;EAS_FEMALE_FREQ_HOMREF=0.781186;EAS_FEMALE_FREQ_HET=0.216769;EAS_FEMALE_FREQ_HOMALT=0.00204499;EUR_AN=7598;EUR_AC=68;EUR_AF=0.00895;EUR_N_BI_GENOS=3799;EUR_N_HOMREF=3731;EUR_N_HET=68;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.982101;EUR_FREQ_HET=0.0178994;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3386;EUR_MALE_AC=30;EUR_MALE_AF=0.00886;EUR_MALE_N_BI_GENOS=1693;EUR_MALE_N_HOMREF=1663;EUR_MALE_N_HET=30;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.98228;EUR_MALE_FREQ_HET=0.01772;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4194;EUR_FEMALE_AC=37;EUR_FEMALE_AF=0.008822;EUR_FEMALE_N_BI_GENOS=2097;EUR_FEMALE_N_HOMREF=2060;EUR_FEMALE_N_HET=37;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.982356;EUR_FEMALE_FREQ_HET=0.0176443;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=186;OTH_AC=4;OTH_AF=0.021505;OTH_N_BI_GENOS=93;OTH_N_HOMREF=89;OTH_N_HET=4;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.956989;OTH_FREQ_HET=0.0430108;OTH_FREQ_HOMALT=0;OTH_MALE_AN=72;OTH_MALE_AC=1;OTH_MALE_AF=0.013889;OTH_MALE_N_BI_GENOS=36;OTH_MALE_N_HOMREF=35;OTH_MALE_N_HET=1;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.972222;OTH_MALE_FREQ_HET=0.0277778;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=3;OTH_FEMALE_AF=0.026316;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=54;OTH_FEMALE_N_HET=3;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.947368;OTH_FEMALE_FREQ_HET=0.0526316;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.119377 | |
| 379 1 605000 gnomAD-SV_v2.1_DUP_1_28 N <DUP> 999 LOW_CALL_RATE END=613000;SVTYPE=DUP;SVLEN=8000;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=14828;AC=4;AF=0.00027;N_BI_GENOS=7414;N_HOMREF=7411;N_HET=2;N_HOMALT=1;FREQ_HOMREF=0.999595;FREQ_HET=0.00026976;FREQ_HOMALT=0.00013488;MALE_AN=7514;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=3757;MALE_N_HOMREF=3757;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=7290;FEMALE_AC=4;FEMALE_AF=0.000549;FEMALE_N_BI_GENOS=3645;FEMALE_N_HOMREF=3642;FEMALE_N_HET=2;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.999177;FEMALE_FREQ_HET=0.000548697;FEMALE_FREQ_HOMALT=0.000274348;AFR_AN=6396;AFR_AC=3;AFR_AF=0.000469;AFR_N_BI_GENOS=3198;AFR_N_HOMREF=3196;AFR_N_HET=1;AFR_N_HOMALT=1;AFR_FREQ_HOMREF=0.999375;AFR_FREQ_HET=0.000312695;AFR_FREQ_HOMALT=0.000312695;AFR_MALE_AN=3522;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=1761;AFR_MALE_N_HOMREF=1761;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2868;AFR_FEMALE_AC=3;AFR_FEMALE_AF=0.001046;AFR_FEMALE_N_BI_GENOS=1434;AFR_FEMALE_N_HOMREF=1432;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=1;AFR_FEMALE_FREQ_HOMREF=0.998605;AFR_FEMALE_FREQ_HET=0.00069735;AFR_FEMALE_FREQ_HOMALT=0.00069735;AMR_AN=1270;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=635;AMR_N_HOMREF=635;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=630;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=315;AMR_MALE_N_HOMREF=315;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=636;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=318;AMR_FEMALE_N_HOMREF=318;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1582;EAS_AC=1;EAS_AF=0.000632;EAS_N_BI_GENOS=791;EAS_N_HOMREF=790;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.998736;EAS_FREQ_HET=0.00126422;EAS_FREQ_HOMALT=0;EAS_MALE_AN=904;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=452;EAS_MALE_N_HOMREF=452;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=672;EAS_FEMALE_AC=1;EAS_FEMALE_AF=0.001488;EAS_FEMALE_N_BI_GENOS=336;EAS_FEMALE_N_HOMREF=335;EAS_FEMALE_N_HET=1;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.997024;EAS_FEMALE_FREQ_HET=0.00297619;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=5446;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=2723;EUR_N_HOMREF=2723;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=2402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1201;EUR_MALE_N_HOMREF=1201;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=3036;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1518;EUR_FEMALE_N_HOMREF=1518;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=134;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=67;OTH_N_HOMREF=67;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=56;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=28;OTH_MALE_N_HOMREF=28;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=78;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=39;OTH_FEMALE_N_HOMREF=39;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000632 | |
| 380 1 657000 gnomAD-SV_v2.1_DEL_1_32 N <DEL> 999 LOW_CALL_RATE END=665000;SVTYPE=DEL;SVLEN=8000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F16;AN=10760;AC=54;AF=0.005019;N_BI_GENOS=5380;N_HOMREF=5326;N_HET=54;N_HOMALT=0;FREQ_HOMREF=0.989963;FREQ_HET=0.0100372;FREQ_HOMALT=0;MALE_AN=5444;MALE_AC=30;MALE_AF=0.005511;MALE_N_BI_GENOS=2722;MALE_N_HOMREF=2692;MALE_N_HET=30;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.988979;MALE_FREQ_HET=0.0110213;MALE_FREQ_HOMALT=0;FEMALE_AN=5288;FEMALE_AC=24;FEMALE_AF=0.004539;FEMALE_N_BI_GENOS=2644;FEMALE_N_HOMREF=2620;FEMALE_N_HET=24;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.990923;FEMALE_FREQ_HET=0.00907716;FEMALE_FREQ_HOMALT=0;AFR_AN=4742;AFR_AC=54;AFR_AF=0.011388;AFR_N_BI_GENOS=2371;AFR_N_HOMREF=2317;AFR_N_HET=54;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.977225;AFR_FREQ_HET=0.0227752;AFR_FREQ_HOMALT=0;AFR_MALE_AN=2582;AFR_MALE_AC=30;AFR_MALE_AF=0.011619;AFR_MALE_N_BI_GENOS=1291;AFR_MALE_N_HOMREF=1261;AFR_MALE_N_HET=30;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.976762;AFR_MALE_FREQ_HET=0.0232378;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=2152;AFR_FEMALE_AC=24;AFR_FEMALE_AF=0.011152;AFR_FEMALE_N_BI_GENOS=1076;AFR_FEMALE_N_HOMREF=1052;AFR_FEMALE_N_HET=24;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.977695;AFR_FEMALE_FREQ_HET=0.0223048;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=794;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=397;AMR_N_HOMREF=397;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=412;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=206;AMR_MALE_N_HOMREF=206;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=382;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=191;AMR_FEMALE_N_HOMREF=191;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=1290;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=645;EAS_N_HOMREF=645;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=758;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=379;EAS_MALE_N_HOMREF=379;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=526;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=263;EAS_FEMALE_N_HOMREF=263;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=3846;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=1923;EUR_N_HOMREF=1923;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=1656;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=828;EUR_MALE_N_HOMREF=828;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=2176;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=1088;EUR_FEMALE_N_HOMREF=1088;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=88;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=44;OTH_N_HOMREF=44;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=36;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=18;OTH_MALE_N_HOMREF=18;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=52;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=26;OTH_FEMALE_N_HOMREF=26;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.011388 | |
| 381 1 658000 gnomAD-SV_v2.1_MCNV_1_11 N <CN=0>,<CN=1>,<CN=2>,<CN=3>,<CN=4>,<CN=5>,<CN=6>,<CN=7> 999 MULTIALLELIC END=676000;SVTYPE=MCNV;SVLEN=18000;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F16;AN=10847;AC=0,359,10177,211,87,10,2,1;AF=0,0.033097,0.938232,0.019452,0.008021,0.000922,0.000184,9.2e-05;MALE_AN=5528;MALE_AC=0,204,5162,112,43,6,1,0;MALE_AF=0,0.036903,0.933792,0.02026,0.007779,0.001085,0.000181,0;FEMALE_AN=5296;FEMALE_AC=0,155,4992,99,44,4,1,1;FEMALE_AF=0,0.029267,0.942598,0.018693,0.008308,0.000755,0.000189,0.000189;AFR_AN=4767;AFR_AC=0,331,4373,58,5,0,0,0;AFR_AF=0,0.069436,0.917348,0.012167,0.001049,0,0,0;AFR_MALE_AN=2615;AFR_MALE_AC=0,190,2391,31,3,0,0,0;AFR_MALE_AF=0,0.072658,0.91434,0.011855,0.001147,0,0,0;AFR_FEMALE_AN=2146;AFR_FEMALE_AC=0,141,1976,27,2,0,0,0;AFR_FEMALE_AF=0,0.065704,0.920783,0.012582,0.000932,0,0,0;AMR_AN=965;AMR_AC=0,2,876,36,40,9,1,1;AMR_AF=0,0.002073,0.907772,0.037306,0.041451,0.009326,0.001036,0.001036;AMR_MALE_AN=480;AMR_MALE_AC=0,0,438,17,19,6,0,0;AMR_MALE_AF=0,0,0.9125,0.035417,0.039583,0.0125,0,0;AMR_FEMALE_AN=481;AMR_FEMALE_AC=0,2,434,19,21,3,1,1;AMR_FEMALE_AF=0,0.004158,0.902287,0.039501,0.043659,0.006237,0.002079,0.002079;EAS_AN=1208;EAS_AC=0,20,1056,91,39,1,1,0;EAS_AF=0,0.016556,0.874172,0.075331,0.032285,0.000828,0.000828,0;EAS_MALE_AN=694;EAS_MALE_AC=0,13,610,49,21,0,1,0;EAS_MALE_AF=0,0.018732,0.878963,0.070605,0.030259,0,0.001441,0;EAS_FEMALE_AN=510;EAS_FEMALE_AC=0,7,442,42,18,1,0,0;EAS_FEMALE_AF=0,0.013725,0.866667,0.082353,0.035294,0.001961,0,0;EUR_AN=3812;EUR_AC=0,4,3785,22,1,0,0,0;EUR_AF=0,0.001049,0.992917,0.005771,0.000262,0,0,0;EUR_MALE_AN=1701;EUR_MALE_AC=0,1,1685,15,0,0,0,0;EUR_MALE_AF=0,0.000588,0.990594,0.008818,0,0,0,0;EUR_FEMALE_AN=2102;EUR_FEMALE_AC=0,3,2091,7,1,0,0,0;EUR_FEMALE_AF=0,0.001427,0.994767,0.00333,0.000476,0,0,0;OTH_AN=95;OTH_AC=0,2,87,4,2,0,0,0;OTH_AF=0,0.021053,0.915789,0.042105,0.021053,0,0,0;OTH_MALE_AN=38;OTH_MALE_AC=0,0,38,0,0,0,0,0;OTH_MALE_AF=0,0,1,0,0,0,0,0;OTH_FEMALE_AN=57;OTH_FEMALE_AC=0,2,49,4,2,0,0,0;OTH_FEMALE_AF=0,0.035088,0.859649,0.070175,0.035088,0,0,0 | |
| 382 1 667725 gnomAD-SV_v2.1_DUP_1_29 N <DUP> 999 PASS END=724000;SVTYPE=DUP;SVLEN=56275;ALGORITHMS=depth;EVIDENCE=BAF,RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F16;AN=21608;AC=129;AF=0.00597;N_BI_GENOS=10804;N_HOMREF=10679;N_HET=121;N_HOMALT=4;FREQ_HOMREF=0.98843;FREQ_HET=0.0111996;FREQ_HOMALT=0.000370233;MALE_AN=11012;MALE_AC=60;MALE_AF=0.005449;MALE_N_BI_GENOS=5506;MALE_N_HOMREF=5448;MALE_N_HET=56;MALE_N_HOMALT=2;MALE_FREQ_HOMREF=0.989466;MALE_FREQ_HET=0.0101707;MALE_FREQ_HOMALT=0.00036324;FEMALE_AN=10550;FEMALE_AC=69;FEMALE_AF=0.00654;FEMALE_N_BI_GENOS=5275;FEMALE_N_HOMREF=5208;FEMALE_N_HET=65;FEMALE_N_HOMALT=2;FEMALE_FREQ_HOMREF=0.987299;FEMALE_FREQ_HET=0.0123223;FEMALE_FREQ_HOMALT=0.000379147;AFR_AN=9492;AFR_AC=52;AFR_AF=0.005478;AFR_N_BI_GENOS=4746;AFR_N_HOMREF=4697;AFR_N_HET=46;AFR_N_HOMALT=3;AFR_FREQ_HOMREF=0.989676;AFR_FREQ_HET=0.00969237;AFR_FREQ_HOMALT=0.000632111;AFR_MALE_AN=5214;AFR_MALE_AC=23;AFR_MALE_AF=0.004411;AFR_MALE_N_BI_GENOS=2607;AFR_MALE_N_HOMREF=2586;AFR_MALE_N_HET=19;AFR_MALE_N_HOMALT=2;AFR_MALE_FREQ_HOMREF=0.991945;AFR_MALE_FREQ_HET=0.00728807;AFR_MALE_FREQ_HOMALT=0.000767165;AFR_FEMALE_AN=4266;AFR_FEMALE_AC=29;AFR_FEMALE_AF=0.006798;AFR_FEMALE_N_BI_GENOS=2133;AFR_FEMALE_N_HOMREF=2105;AFR_FEMALE_N_HET=27;AFR_FEMALE_N_HOMALT=1;AFR_FEMALE_FREQ_HOMREF=0.986873;AFR_FEMALE_FREQ_HET=0.0126582;AFR_FEMALE_FREQ_HOMALT=0.000468823;AMR_AN=1908;AMR_AC=12;AMR_AF=0.006289;AMR_N_BI_GENOS=954;AMR_N_HOMREF=942;AMR_N_HET=12;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.987421;AMR_FREQ_HET=0.0125786;AMR_FREQ_HOMALT=0;AMR_MALE_AN=948;AMR_MALE_AC=2;AMR_MALE_AF=0.00211;AMR_MALE_N_BI_GENOS=474;AMR_MALE_N_HOMREF=472;AMR_MALE_N_HET=2;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.995781;AMR_MALE_FREQ_HET=0.00421941;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=952;AMR_FEMALE_AC=10;AMR_FEMALE_AF=0.010504;AMR_FEMALE_N_BI_GENOS=476;AMR_FEMALE_N_HOMREF=466;AMR_FEMALE_N_HET=10;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.978992;AMR_FEMALE_FREQ_HET=0.0210084;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2402;EAS_AC=5;EAS_AF=0.002082;EAS_N_BI_GENOS=1201;EAS_N_HOMREF=1197;EAS_N_HET=3;EAS_N_HOMALT=1;EAS_FREQ_HOMREF=0.996669;EAS_FREQ_HET=0.00249792;EAS_FREQ_HOMALT=0.000832639;EAS_MALE_AN=1378;EAS_MALE_AC=1;EAS_MALE_AF=0.000726;EAS_MALE_N_BI_GENOS=689;EAS_MALE_N_HOMREF=688;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.998549;EAS_MALE_FREQ_HET=0.00145138;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1016;EAS_FEMALE_AC=4;EAS_FEMALE_AF=0.003937;EAS_FEMALE_N_BI_GENOS=508;EAS_FEMALE_N_HOMREF=505;EAS_FEMALE_N_HET=2;EAS_FEMALE_N_HOMALT=1;EAS_FEMALE_FREQ_HOMREF=0.994094;EAS_FEMALE_FREQ_HET=0.00393701;EAS_FEMALE_FREQ_HOMALT=0.0019685;EUR_AN=7616;EUR_AC=60;EUR_AF=0.007878;EUR_N_BI_GENOS=3808;EUR_N_HOMREF=3748;EUR_N_HET=60;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.984244;EUR_FREQ_HET=0.0157563;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3396;EUR_MALE_AC=34;EUR_MALE_AF=0.010012;EUR_MALE_N_BI_GENOS=1698;EUR_MALE_N_HOMREF=1664;EUR_MALE_N_HET=34;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.979976;EUR_MALE_FREQ_HET=0.0200236;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4202;EUR_FEMALE_AC=26;EUR_FEMALE_AF=0.006188;EUR_FEMALE_N_BI_GENOS=2101;EUR_FEMALE_N_HOMREF=2075;EUR_FEMALE_N_HET=26;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.987625;EUR_FEMALE_FREQ_HET=0.0123751;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.007878 | |
| 383 1 668630 gnomAD-SV_v2.1_BND_1_7 N <BND> 774 UNRESOLVED END=668631;SVTYPE=BND;SVLEN=181575;CHR2=1;POS2=850205;END2=850206;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=BAF,SR;UNRESOLVED_TYPE=MIXED_BREAKENDS;AN=21664;AC=198;AF=0.00914;N_BI_GENOS=10832;N_HOMREF=10643;N_HET=180;N_HOMALT=9;FREQ_HOMREF=0.982552;FREQ_HET=0.0166174;FREQ_HOMALT=0.000830872;MALE_AN=11040;MALE_AC=123;MALE_AF=0.011141;MALE_N_BI_GENOS=5520;MALE_N_HOMREF=5402;MALE_N_HET=113;MALE_N_HOMALT=5;MALE_FREQ_HOMREF=0.978623;MALE_FREQ_HET=0.020471;MALE_FREQ_HOMALT=0.000905797;FEMALE_AN=10578;FEMALE_AC=75;FEMALE_AF=0.00709;FEMALE_N_BI_GENOS=5289;FEMALE_N_HOMREF=5218;FEMALE_N_HET=67;FEMALE_N_HOMALT=4;FEMALE_FREQ_HOMREF=0.986576;FEMALE_FREQ_HET=0.0126678;FEMALE_FREQ_HOMALT=0.000756287;AFR_AN=9534;AFR_AC=2;AFR_AF=0.00021;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4765;AFR_N_HET=2;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.99958;AFR_FREQ_HET=0.000419551;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=2;AFR_MALE_AF=0.000382;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2613;AFR_MALE_N_HET=2;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999235;AFR_MALE_FREQ_HET=0.000764818;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2386;EAS_AC=195;EAS_AF=0.081727;EAS_N_BI_GENOS=1193;EAS_N_HOMREF=1007;EAS_N_HET=177;EAS_N_HOMALT=9;EAS_FREQ_HOMREF=0.844091;EAS_FREQ_HET=0.148365;EAS_FREQ_HOMALT=0.00754401;EAS_MALE_AN=1372;EAS_MALE_AC=121;EAS_MALE_AF=0.088192;EAS_MALE_N_BI_GENOS=686;EAS_MALE_N_HOMREF=570;EAS_MALE_N_HET=111;EAS_MALE_N_HOMALT=5;EAS_MALE_FREQ_HOMREF=0.830904;EAS_MALE_FREQ_HET=0.161808;EAS_MALE_FREQ_HOMALT=0.00728863;EAS_FEMALE_AN=1006;EAS_FEMALE_AC=74;EAS_FEMALE_AF=0.073559;EAS_FEMALE_N_BI_GENOS=503;EAS_FEMALE_N_HOMREF=433;EAS_FEMALE_N_HET=66;EAS_FEMALE_N_HOMALT=4;EAS_FEMALE_FREQ_HOMREF=0.860835;EAS_FEMALE_FREQ_HET=0.131213;EAS_FEMALE_FREQ_HOMALT=0.00795229;EUR_AN=7624;EUR_AC=1;EUR_AF=0.000131;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3811;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999738;EUR_FREQ_HET=0.000262329;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000238;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2101;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999524;EUR_FEMALE_FREQ_HET=0.000475737;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.081727 | |
| 384 1 668630 gnomAD-SV_v2.1_DUP_1_30 N <DUP> 999 PASS END=850205;SVTYPE=DUP;SVLEN=181575;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=BAF,PE,RD,SR;PROTEIN_CODING__COPY_GAIN=AL645608.2,AL669831.1;AN=21692;AC=232;AF=0.010695;N_BI_GENOS=10846;N_HOMREF=10626;N_HET=208;N_HOMALT=12;FREQ_HOMREF=0.979716;FREQ_HET=0.0191776;FREQ_HOMALT=0.0011064;MALE_AN=11054;MALE_AC=142;MALE_AF=0.012846;MALE_N_BI_GENOS=5527;MALE_N_HOMREF=5392;MALE_N_HET=128;MALE_N_HOMALT=7;MALE_FREQ_HOMREF=0.975574;MALE_FREQ_HET=0.023159;MALE_FREQ_HOMALT=0.00126651;FEMALE_AN=10592;FEMALE_AC=90;FEMALE_AF=0.008497;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5211;FEMALE_N_HET=80;FEMALE_N_HOMALT=5;FEMALE_FREQ_HOMREF=0.98395;FEMALE_FREQ_HET=0.0151057;FEMALE_FREQ_HOMALT=0.000944109;AFR_AN=9532;AFR_AC=13;AFR_AF=0.001364;AFR_N_BI_GENOS=4766;AFR_N_HOMREF=4753;AFR_N_HET=13;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.997272;AFR_FREQ_HET=0.00272765;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5228;AFR_MALE_AC=7;AFR_MALE_AF=0.001339;AFR_MALE_N_BI_GENOS=2614;AFR_MALE_N_HOMREF=2607;AFR_MALE_N_HET=7;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.997322;AFR_MALE_FREQ_HET=0.00267789;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=6;AFR_FEMALE_AF=0.001398;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2140;AFR_FEMALE_N_HET=6;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.997204;AFR_FEMALE_FREQ_HET=0.0027959;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=215;EAS_AF=0.08899;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1005;EAS_N_HET=191;EAS_N_HOMALT=12;EAS_FREQ_HOMREF=0.831954;EAS_FREQ_HET=0.158113;EAS_FREQ_HOMALT=0.00993378;EAS_MALE_AN=1388;EAS_MALE_AC=133;EAS_MALE_AF=0.095821;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=568;EAS_MALE_N_HET=119;EAS_MALE_N_HOMALT=7;EAS_MALE_FREQ_HOMREF=0.818444;EAS_MALE_FREQ_HET=0.17147;EAS_MALE_FREQ_HOMALT=0.0100865;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=82;EAS_FEMALE_AF=0.080392;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=433;EAS_FEMALE_N_HET=72;EAS_FEMALE_N_HOMALT=5;EAS_FEMALE_FREQ_HOMREF=0.84902;EAS_FEMALE_FREQ_HET=0.141176;EAS_FEMALE_FREQ_HOMALT=0.00980392;EUR_AN=7624;EUR_AC=4;EUR_AF=0.000525;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3808;EUR_N_HET=4;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.998951;EUR_FREQ_HET=0.00104932;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=2;EUR_MALE_AF=0.000588;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1699;EUR_MALE_N_HET=2;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.998824;EUR_MALE_FREQ_HET=0.00117578;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=2;EUR_FEMALE_AF=0.000476;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2100;EUR_FEMALE_N_HET=2;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999049;EUR_FEMALE_FREQ_HET=0.000951475;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.08899 | |
| 385 1 686000 gnomAD-SV_v2.1_DUP_1_31 N <DUP> 118 PASS END=700425;SVTYPE=DUP;SVLEN=14425;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F16;AN=20750;AC=3;AF=0.000145;N_BI_GENOS=10375;N_HOMREF=10372;N_HET=3;N_HOMALT=0;FREQ_HOMREF=0.999711;FREQ_HET=0.000289157;FREQ_HOMALT=0;MALE_AN=10486;MALE_AC=1;MALE_AF=9.5e-05;MALE_N_BI_GENOS=5243;MALE_N_HOMREF=5242;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999809;MALE_FREQ_HET=0.00019073;MALE_FREQ_HOMALT=0;FEMALE_AN=10222;FEMALE_AC=2;FEMALE_AF=0.000196;FEMALE_N_BI_GENOS=5111;FEMALE_N_HOMREF=5109;FEMALE_N_HET=2;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999609;FEMALE_FREQ_HET=0.000391313;FEMALE_FREQ_HOMALT=0;AFR_AN=8822;AFR_AC=1;AFR_AF=0.000113;AFR_N_BI_GENOS=4411;AFR_N_HOMREF=4410;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.999773;AFR_FREQ_HET=0.000226706;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4808;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2404;AFR_MALE_N_HOMREF=2404;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4006;AFR_FEMALE_AC=1;AFR_FEMALE_AF=0.00025;AFR_FEMALE_N_BI_GENOS=2003;AFR_FEMALE_N_HOMREF=2002;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.999501;AFR_FEMALE_FREQ_HET=0.000499251;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1900;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=950;AMR_N_HOMREF=950;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=944;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=472;AMR_MALE_N_HOMREF=472;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=948;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=474;AMR_FEMALE_N_HOMREF=474;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2270;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1135;EAS_N_HOMREF=1135;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1286;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=643;EAS_MALE_N_HOMREF=643;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=976;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=488;EAS_FEMALE_N_HOMREF=488;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7568;EUR_AC=2;EUR_AF=0.000264;EUR_N_BI_GENOS=3784;EUR_N_HOMREF=3782;EUR_N_HET=2;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999471;EUR_FREQ_HET=0.000528541;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3372;EUR_MALE_AC=1;EUR_MALE_AF=0.000297;EUR_MALE_N_BI_GENOS=1686;EUR_MALE_N_HOMREF=1685;EUR_MALE_N_HET=1;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.999407;EUR_MALE_FREQ_HET=0.00059312;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4178;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000239;EUR_FEMALE_N_BI_GENOS=2089;EUR_FEMALE_N_HOMREF=2088;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999521;EUR_FEMALE_FREQ_HET=0.000478698;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000264 | |
| 386 1 711673 gnomAD-SV_v2.1_INS_1_8 N <INS> 261 PASS END=711674;SVTYPE=INS;SVLEN=175;CHR2=1;POS2=711690;END2=711691;ALGORITHMS=manta;BOTHSIDES_SUPPORT;EVIDENCE=SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=OR4F16;AN=21582;AC=21;AF=0.000973;N_BI_GENOS=10791;N_HOMREF=10770;N_HET=21;N_HOMALT=0;FREQ_HOMREF=0.998054;FREQ_HET=0.00194607;FREQ_HOMALT=0;MALE_AN=10982;MALE_AC=14;MALE_AF=0.001275;MALE_N_BI_GENOS=5491;MALE_N_HOMREF=5477;MALE_N_HET=14;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.99745;MALE_FREQ_HET=0.00254963;MALE_FREQ_HOMALT=0;FEMALE_AN=10554;FEMALE_AC=7;FEMALE_AF=0.000663;FEMALE_N_BI_GENOS=5277;FEMALE_N_HOMREF=5270;FEMALE_N_HET=7;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.998673;FEMALE_FREQ_HET=0.00132651;FEMALE_FREQ_HOMALT=0;AFR_AN=9422;AFR_AC=21;AFR_AF=0.002229;AFR_N_BI_GENOS=4711;AFR_N_HOMREF=4690;AFR_N_HET=21;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.995542;AFR_FREQ_HET=0.00445765;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5156;AFR_MALE_AC=14;AFR_MALE_AF=0.002715;AFR_MALE_N_BI_GENOS=2578;AFR_MALE_N_HOMREF=2564;AFR_MALE_N_HET=14;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.994569;AFR_MALE_FREQ_HET=0.00543057;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4254;AFR_FEMALE_AC=7;AFR_FEMALE_AF=0.001646;AFR_FEMALE_N_BI_GENOS=2127;AFR_FEMALE_N_HOMREF=2120;AFR_FEMALE_N_HET=7;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.996709;AFR_FEMALE_FREQ_HET=0.00329102;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.002229 | |
| 387 1 713367 gnomAD-SV_v2.1_BND_1_8 N <BND> 709 UNRESOLVED END=713368;SVTYPE=BND;SVLEN=156;CHR2=1;POS2=713523;END2=713524;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=SR;UNRESOLVED_TYPE=INVERSION_SINGLE_ENDER_++;AN=21694;AC=1;AF=4.6e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21914e-05;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5527;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.000180897;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=1;AFR_AF=0.000105;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4766;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.99979;AFR_FREQ_HET=0.000209776;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=1;AFR_MALE_AF=0.000191;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2614;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999618;AFR_MALE_FREQ_HET=0.000382409;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000105 | |
| 388 1 718808 gnomAD-SV_v2.1_BND_1_9 N <BND> 89 UNRESOLVED END=718809;SVTYPE=BND;SVLEN=223507892;CHR2=1;POS2=224226700;END2=224226701;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=SR;UNRESOLVED_TYPE=SINGLE_ENDER_-+;AN=21692;AC=2;AF=9.2e-05;N_BI_GENOS=10846;N_HOMREF=10844;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999816;FREQ_HET=0.0001844;FREQ_HOMALT=0;MALE_AN=11054;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5527;MALE_N_HOMREF=5526;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.00018093;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=1;FEMALE_AF=9.4e-05;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5295;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999811;FEMALE_FREQ_HET=0.000188822;FEMALE_FREQ_HOMALT=0;AFR_AN=9532;AFR_AC=2;AFR_AF=0.00021;AFR_N_BI_GENOS=4766;AFR_N_HOMREF=4764;AFR_N_HET=2;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.99958;AFR_FREQ_HET=0.000419639;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5228;AFR_MALE_AC=1;AFR_MALE_AF=0.000191;AFR_MALE_N_BI_GENOS=2614;AFR_MALE_N_HOMREF=2613;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999617;AFR_MALE_FREQ_HET=0.000382555;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=1;AFR_FEMALE_AF=0.000233;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2145;AFR_FEMALE_N_HET=1;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.999534;AFR_FEMALE_FREQ_HET=0.000465983;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.00021 | |
| 389 1 720320 gnomAD-SV_v2.1_INS_1_9 N <INS:ME:SVA> 680 PASS END=720321;SVTYPE=INS;SVLEN=968;CHR2=1;POS2=720340;END2=720341;ALGORITHMS=melt;BOTHSIDES_SUPPORT;EVIDENCE=SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21694;AC=1;AF=4.6e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21914e-05;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=0;MALE_AF=0;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5528;MALE_N_HET=0;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=1;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=1;FEMALE_AF=9.4e-05;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5295;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999811;FEMALE_FREQ_HET=0.000188822;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=1;EUR_AF=0.000131;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3811;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999738;EUR_FREQ_HET=0.000262329;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=1;EUR_FEMALE_AF=0.000238;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2101;EUR_FEMALE_N_HET=1;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=0.999524;EUR_FEMALE_FREQ_HET=0.000475737;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000131 | |
| 390 1 721938 gnomAD-SV_v2.1_BND_1_10 N <BND> 944 UNRESOLVED END=721939;SVTYPE=BND;SVLEN=51075;CHR2=1;POS2=773013;END2=773014;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=BAF,PE,SR;UNRESOLVED_TYPE=SINGLE_ENDER_-+;AN=21694;AC=1;AF=4.6e-05;N_BI_GENOS=10847;N_HOMREF=10846;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21914e-05;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5527;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.000180897;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=1;EUR_AF=0.000131;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3811;EUR_N_HET=1;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999738;EUR_FREQ_HET=0.000262329;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=1;EUR_MALE_AF=0.000294;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1700;EUR_MALE_N_HET=1;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.999412;EUR_MALE_FREQ_HET=0.000587889;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000131 | |
| 391 1 721938 gnomAD-SV_v2.1_DUP_1_32 N <DUP> 999 LOW_CALL_RATE END=773013;SVTYPE=DUP;SVLEN=51075;ALGORITHMS=delly,depth;BOTHSIDES_SUPPORT;EVIDENCE=PE,RD,SR;PROTEIN_CODING__COPY_GAIN=AL669831.1;UNSTABLE_AF_PCRPLUS;AN=1016;AC=4;AF=0.003937;N_BI_GENOS=508;N_HOMREF=506;N_HET=0;N_HOMALT=2;FREQ_HOMREF=0.996063;FREQ_HET=0;FREQ_HOMALT=0.00393701;MALE_AN=576;MALE_AC=2;MALE_AF=0.003472;MALE_N_BI_GENOS=288;MALE_N_HOMREF=287;MALE_N_HET=0;MALE_N_HOMALT=1;MALE_FREQ_HOMREF=0.996528;MALE_FREQ_HET=0;MALE_FREQ_HOMALT=0.00347222;FEMALE_AN=432;FEMALE_AC=2;FEMALE_AF=0.00463;FEMALE_N_BI_GENOS=216;FEMALE_N_HOMREF=215;FEMALE_N_HET=0;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.99537;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0.00462963;AFR_AN=418;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=209;AFR_N_HOMREF=209;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=256;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=128;AFR_MALE_N_HOMREF=128;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=158;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=79;AFR_FEMALE_N_HOMREF=79;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=436;AMR_AC=2;AMR_AF=0.004587;AMR_N_BI_GENOS=218;AMR_N_HOMREF=217;AMR_N_HET=0;AMR_N_HOMALT=1;AMR_FREQ_HOMREF=0.995413;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0.00458716;AMR_MALE_AN=246;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=123;AMR_MALE_N_HOMREF=123;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=186;AMR_FEMALE_AC=2;AMR_FEMALE_AF=0.010753;AMR_FEMALE_N_BI_GENOS=93;AMR_FEMALE_N_HOMREF=92;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=1;AMR_FEMALE_FREQ_HOMREF=0.989247;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0.0107527;EAS_AN=0;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=0;EAS_N_HOMREF=0;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=0;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=0;EAS_MALE_N_HOMREF=0;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=0;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=0;EAS_FEMALE_N_HOMREF=0;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=162;EUR_AC=2;EUR_AF=0.012346;EUR_N_BI_GENOS=81;EUR_N_HOMREF=80;EUR_N_HET=0;EUR_N_HOMALT=1;EUR_FREQ_HOMREF=0.987654;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0.0123457;EUR_MALE_AN=74;EUR_MALE_AC=2;EUR_MALE_AF=0.027027;EUR_MALE_N_BI_GENOS=37;EUR_MALE_N_HOMREF=36;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=1;EUR_MALE_FREQ_HOMREF=0.972973;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0.027027;EUR_FEMALE_AN=88;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=44;EUR_FEMALE_N_HOMREF=44;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=0;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=0;OTH_N_HOMREF=0;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=0;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=0;OTH_MALE_N_HOMREF=0;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=0;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=0;OTH_FEMALE_N_HOMREF=0;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.012346 | |
| 392 1 728000 gnomAD-SV_v2.1_DUP_1_33 N <DUP> 999 PASS END=733650;SVTYPE=DUP;SVLEN=5650;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL645608.2;AN=21200;AC=697;AF=0.032877;N_BI_GENOS=10600;N_HOMREF=9920;N_HET=663;N_HOMALT=17;FREQ_HOMREF=0.935849;FREQ_HET=0.0625472;FREQ_HOMALT=0.00160377;MALE_AN=10820;MALE_AC=343;MALE_AF=0.031701;MALE_N_BI_GENOS=5410;MALE_N_HOMREF=5076;MALE_N_HET=325;MALE_N_HOMALT=9;MALE_FREQ_HOMREF=0.938262;MALE_FREQ_HET=0.0600739;MALE_FREQ_HOMALT=0.00166359;FEMALE_AN=10338;FEMALE_AC=352;FEMALE_AF=0.034049;FEMALE_N_BI_GENOS=5169;FEMALE_N_HOMREF=4825;FEMALE_N_HET=336;FEMALE_N_HOMALT=8;FEMALE_FREQ_HOMREF=0.933449;FEMALE_FREQ_HET=0.0650029;FEMALE_FREQ_HOMALT=0.00154769;AFR_AN=9318;AFR_AC=272;AFR_AF=0.029191;AFR_N_BI_GENOS=4659;AFR_N_HOMREF=4391;AFR_N_HET=264;AFR_N_HOMALT=4;AFR_FREQ_HOMREF=0.942477;AFR_FREQ_HET=0.0566645;AFR_FREQ_HOMALT=0.000858553;AFR_MALE_AN=5126;AFR_MALE_AC=138;AFR_MALE_AF=0.026922;AFR_MALE_N_BI_GENOS=2563;AFR_MALE_N_HOMREF=2428;AFR_MALE_N_HET=132;AFR_MALE_N_HOMALT=3;AFR_MALE_FREQ_HOMREF=0.947327;AFR_MALE_FREQ_HET=0.0515021;AFR_MALE_FREQ_HOMALT=0.0011705;AFR_FEMALE_AN=4184;AFR_FEMALE_AC=133;AFR_FEMALE_AF=0.031788;AFR_FEMALE_N_BI_GENOS=2092;AFR_FEMALE_N_HOMREF=1960;AFR_FEMALE_N_HET=131;AFR_FEMALE_N_HOMALT=1;AFR_FEMALE_FREQ_HOMREF=0.936902;AFR_FEMALE_FREQ_HET=0.0626195;AFR_FEMALE_FREQ_HOMALT=0.000478011;AMR_AN=1898;AMR_AC=51;AMR_AF=0.02687;AMR_N_BI_GENOS=949;AMR_N_HOMREF=898;AMR_N_HET=51;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.946259;AMR_FREQ_HET=0.0537408;AMR_FREQ_HOMALT=0;AMR_MALE_AN=946;AMR_MALE_AC=19;AMR_MALE_AF=0.020085;AMR_MALE_N_BI_GENOS=473;AMR_MALE_N_HOMREF=454;AMR_MALE_N_HET=19;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.959831;AMR_MALE_FREQ_HET=0.0401691;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=944;AMR_FEMALE_AC=32;AMR_FEMALE_AF=0.033898;AMR_FEMALE_N_BI_GENOS=472;AMR_FEMALE_N_HOMREF=440;AMR_FEMALE_N_HET=32;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.932203;AMR_FEMALE_FREQ_HET=0.0677966;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2348;EAS_AC=7;EAS_AF=0.002981;EAS_N_BI_GENOS=1174;EAS_N_HOMREF=1167;EAS_N_HET=7;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.994037;EAS_FREQ_HET=0.00596252;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1348;EAS_MALE_AC=5;EAS_MALE_AF=0.003709;EAS_MALE_N_BI_GENOS=674;EAS_MALE_N_HOMREF=669;EAS_MALE_N_HET=5;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.992582;EAS_MALE_FREQ_HET=0.0074184;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=992;EAS_FEMALE_AC=2;EAS_FEMALE_AF=0.002016;EAS_FEMALE_N_BI_GENOS=496;EAS_FEMALE_N_HOMREF=494;EAS_FEMALE_N_HET=2;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.995968;EAS_FEMALE_FREQ_HET=0.00403226;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7448;EUR_AC=362;EUR_AF=0.048604;EUR_N_BI_GENOS=3724;EUR_N_HOMREF=3375;EUR_N_HET=336;EUR_N_HOMALT=13;EUR_FREQ_HOMREF=0.906284;EUR_FREQ_HET=0.0902256;EUR_FREQ_HOMALT=0.00349087;EUR_MALE_AN=3324;EUR_MALE_AC=180;EUR_MALE_AF=0.054152;EUR_MALE_N_BI_GENOS=1662;EUR_MALE_N_HOMREF=1488;EUR_MALE_N_HET=168;EUR_MALE_N_HOMALT=6;EUR_MALE_FREQ_HOMREF=0.895307;EUR_MALE_FREQ_HET=0.101083;EUR_MALE_FREQ_HOMALT=0.00361011;EUR_FEMALE_AN=4106;EUR_FEMALE_AC=181;EUR_FEMALE_AF=0.044082;EUR_FEMALE_N_BI_GENOS=2053;EUR_FEMALE_N_HOMREF=1879;EUR_FEMALE_N_HET=167;EUR_FEMALE_N_HOMALT=7;EUR_FEMALE_FREQ_HOMREF=0.915246;EUR_FEMALE_FREQ_HET=0.0813444;EUR_FEMALE_FREQ_HOMALT=0.00340964;OTH_AN=188;OTH_AC=5;OTH_AF=0.026596;OTH_N_BI_GENOS=94;OTH_N_HOMREF=89;OTH_N_HET=5;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.946809;OTH_FREQ_HET=0.0531915;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=1;OTH_MALE_AF=0.013158;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=1;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.973684;OTH_MALE_FREQ_HET=0.0263158;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=112;OTH_FEMALE_AC=4;OTH_FEMALE_AF=0.035714;OTH_FEMALE_N_BI_GENOS=56;OTH_FEMALE_N_HOMREF=52;OTH_FEMALE_N_HET=4;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.928571;OTH_FEMALE_FREQ_HET=0.0714286;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.048604 | |
| 393 1 728092 gnomAD-SV_v2.1_BND_1_11 N <BND> 424 UNRESOLVED END=728093;SVTYPE=BND;SVLEN=48788;CHR2=1;POS2=776880;END2=776881;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=SR;UNRESOLVED_TYPE=SINGLE_ENDER_+-;AN=21694;AC=2;AF=9.2e-05;N_BI_GENOS=10847;N_HOMREF=10845;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999816;FREQ_HET=0.000184383;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=2;MALE_AF=0.000181;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5526;MALE_N_HET=2;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999638;MALE_FREQ_HET=0.000361794;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=2;EUR_AF=0.000262;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3810;EUR_N_HET=2;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999475;EUR_FREQ_HET=0.000524659;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=2;EUR_MALE_AF=0.000588;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1699;EUR_MALE_N_HET=2;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.998824;EUR_MALE_FREQ_HET=0.00117578;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000262 | |
| 394 1 728092 gnomAD-SV_v2.1_DEL_1_34 N <DEL> 999 PASS END=776880;SVTYPE=DEL;SVLEN=48788;ALGORITHMS=delly,depth;BOTHSIDES_SUPPORT;EVIDENCE=RD,SR;PROTEIN_CODING__LOF=AL669831.1;AN=21636;AC=5;AF=0.000231;N_BI_GENOS=10818;N_HOMREF=10813;N_HET=5;N_HOMALT=0;FREQ_HOMREF=0.999538;FREQ_HET=0.000462193;FREQ_HOMALT=0;MALE_AN=11024;MALE_AC=3;MALE_AF=0.000272;MALE_N_BI_GENOS=5512;MALE_N_HOMREF=5509;MALE_N_HET=3;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999456;MALE_FREQ_HET=0.000544267;MALE_FREQ_HOMALT=0;FEMALE_AN=10566;FEMALE_AC=2;FEMALE_AF=0.000189;FEMALE_N_BI_GENOS=5283;FEMALE_N_HOMREF=5281;FEMALE_N_HET=2;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999621;FEMALE_FREQ_HET=0.000378573;FEMALE_FREQ_HOMALT=0;AFR_AN=9508;AFR_AC=1;AFR_AF=0.000105;AFR_N_BI_GENOS=4754;AFR_N_HOMREF=4753;AFR_N_HET=1;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.99979;AFR_FREQ_HET=0.000210349;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5218;AFR_MALE_AC=1;AFR_MALE_AF=0.000192;AFR_MALE_N_BI_GENOS=2609;AFR_MALE_N_HOMREF=2608;AFR_MALE_N_HET=1;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.999617;AFR_MALE_FREQ_HET=0.000383289;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4278;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2139;AFR_FEMALE_N_HOMREF=2139;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1908;AMR_AC=1;AMR_AF=0.000524;AMR_N_BI_GENOS=954;AMR_N_HOMREF=953;AMR_N_HET=1;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.998952;AMR_FREQ_HET=0.00104822;AMR_FREQ_HOMALT=0;AMR_MALE_AN=948;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=474;AMR_MALE_N_HOMREF=474;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=952;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.00105;AMR_FEMALE_N_BI_GENOS=476;AMR_FEMALE_N_HOMREF=475;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997899;AMR_FEMALE_FREQ_HET=0.00210084;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=1;EAS_AF=0.000414;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1207;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999172;EAS_FREQ_HET=0.000827815;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=1;EAS_FEMALE_AF=0.00098;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=509;EAS_FEMALE_N_HET=1;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.998039;EAS_FEMALE_FREQ_HET=0.00196078;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7614;EUR_AC=2;EUR_AF=0.000263;EUR_N_BI_GENOS=3807;EUR_N_HOMREF=3805;EUR_N_HET=2;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=0.999475;EUR_FREQ_HET=0.000525348;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3394;EUR_MALE_AC=2;EUR_MALE_AF=0.000589;EUR_MALE_N_BI_GENOS=1697;EUR_MALE_N_HOMREF=1695;EUR_MALE_N_HET=2;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=0.998821;EUR_MALE_FREQ_HET=0.00117855;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4202;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2101;EUR_FEMALE_N_HOMREF=2101;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000524 | |
| 395 1 737017 gnomAD-SV_v2.1_BND_1_12 N <BND> 753 UNRESOLVED END=737018;SVTYPE=BND;SVLEN=1543;CHR2=1;POS2=738560;END2=738561;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=SR;UNRESOLVED_TYPE=SINGLE_ENDER_+-;AN=21692;AC=1;AF=4.6e-05;N_BI_GENOS=10846;N_HOMREF=10845;N_HET=1;N_HOMALT=0;FREQ_HOMREF=0.999908;FREQ_HET=9.21999e-05;FREQ_HOMALT=0;MALE_AN=11054;MALE_AC=1;MALE_AF=9e-05;MALE_N_BI_GENOS=5527;MALE_N_HOMREF=5526;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999819;MALE_FREQ_HET=0.00018093;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=0;FEMALE_AF=0;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5296;FEMALE_N_HET=0;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=1;FEMALE_FREQ_HET=0;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2414;EAS_AC=1;EAS_AF=0.000414;EAS_N_BI_GENOS=1207;EAS_N_HOMREF=1206;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999171;EAS_FREQ_HET=0.0008285;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1386;EAS_MALE_AC=1;EAS_MALE_AF=0.000722;EAS_MALE_N_BI_GENOS=693;EAS_MALE_N_HOMREF=692;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.998557;EAS_MALE_FREQ_HET=0.001443;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000414 | |
| 396 1 738610 gnomAD-SV_v2.1_DEL_1_35 N <DEL> 500 PASS END=742016;SVTYPE=DEL;SVLEN=3406;ALGORITHMS=delly;BOTHSIDES_SUPPORT;EVIDENCE=RD,SR;PROTEIN_CODING__LOF=AL669831.1;AN=21694;AC=12;AF=0.000553;N_BI_GENOS=10847;N_HOMREF=10835;N_HET=12;N_HOMALT=0;FREQ_HOMREF=0.998894;FREQ_HET=0.0011063;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=7;MALE_AF=0.000633;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5521;MALE_N_HET=7;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.998734;MALE_FREQ_HET=0.00126628;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=5;FEMALE_AF=0.000472;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5291;FEMALE_N_HET=5;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999056;FEMALE_FREQ_HET=0.000944109;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4767;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2615;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2146;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=12;EAS_AF=0.004967;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1196;EAS_N_HET=12;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.990066;EAS_FREQ_HET=0.00993378;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=7;EAS_MALE_AF=0.005043;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=687;EAS_MALE_N_HET=7;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.989914;EAS_MALE_FREQ_HET=0.0100865;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=5;EAS_FEMALE_AF=0.004902;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=505;EAS_FEMALE_N_HET=5;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.990196;EAS_FEMALE_FREQ_HET=0.00980392;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.004967 | |
| 397 1 744700 gnomAD-SV_v2.1_DUP_1_34 N <DUP> 999 PASS END=751000;SVTYPE=DUP;SVLEN=6300;ALGORITHMS=depth;EVIDENCE=RD;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL669831.1;AN=19752;AC=282;AF=0.014277;N_BI_GENOS=9876;N_HOMREF=9602;N_HET=266;N_HOMALT=8;FREQ_HOMREF=0.972256;FREQ_HET=0.026934;FREQ_HOMALT=0.000810045;MALE_AN=10038;MALE_AC=136;MALE_AF=0.013549;MALE_N_BI_GENOS=5019;MALE_N_HOMREF=4887;MALE_N_HET=128;MALE_N_HOMALT=4;MALE_FREQ_HOMREF=0.9737;MALE_FREQ_HET=0.0255031;MALE_FREQ_HOMALT=0.000796971;FEMALE_AN=9672;FEMALE_AC=146;FEMALE_AF=0.015095;FEMALE_N_BI_GENOS=4836;FEMALE_N_HOMREF=4694;FEMALE_N_HET=138;FEMALE_N_HOMALT=4;FEMALE_FREQ_HOMREF=0.970637;FEMALE_FREQ_HET=0.028536;FEMALE_FREQ_HOMALT=0.00082713;AFR_AN=8336;AFR_AC=63;AFR_AF=0.007558;AFR_N_BI_GENOS=4168;AFR_N_HOMREF=4105;AFR_N_HET=63;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.984885;AFR_FREQ_HET=0.0151152;AFR_FREQ_HOMALT=0;AFR_MALE_AN=4552;AFR_MALE_AC=30;AFR_MALE_AF=0.006591;AFR_MALE_N_BI_GENOS=2276;AFR_MALE_N_HOMREF=2246;AFR_MALE_N_HET=30;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.986819;AFR_MALE_FREQ_HET=0.013181;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=3774;AFR_FEMALE_AC=33;AFR_FEMALE_AF=0.008744;AFR_FEMALE_N_BI_GENOS=1887;AFR_FEMALE_N_HOMREF=1854;AFR_FEMALE_N_HET=33;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.982512;AFR_FEMALE_FREQ_HET=0.0174881;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1834;AMR_AC=26;AMR_AF=0.014177;AMR_N_BI_GENOS=917;AMR_N_HOMREF=891;AMR_N_HET=26;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.971647;AMR_FREQ_HET=0.0283533;AMR_FREQ_HOMALT=0;AMR_MALE_AN=932;AMR_MALE_AC=12;AMR_MALE_AF=0.012876;AMR_MALE_N_BI_GENOS=466;AMR_MALE_N_HOMREF=454;AMR_MALE_N_HET=12;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.974249;AMR_MALE_FREQ_HET=0.0257511;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=894;AMR_FEMALE_AC=14;AMR_FEMALE_AF=0.01566;AMR_FEMALE_N_BI_GENOS=447;AMR_FEMALE_N_HOMREF=433;AMR_FEMALE_N_HET=14;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.96868;AMR_FEMALE_FREQ_HET=0.0313199;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2284;EAS_AC=3;EAS_AF=0.001313;EAS_N_BI_GENOS=1142;EAS_N_HOMREF=1139;EAS_N_HET=3;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.997373;EAS_FREQ_HET=0.00262697;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1314;EAS_MALE_AC=2;EAS_MALE_AF=0.001522;EAS_MALE_N_BI_GENOS=657;EAS_MALE_N_HOMREF=655;EAS_MALE_N_HET=2;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.996956;EAS_MALE_FREQ_HET=0.00304414;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=962;EAS_FEMALE_AC=1;EAS_FEMALE_AF=0.00104;EAS_FEMALE_N_BI_GENOS=481;EAS_FEMALE_N_HOMREF=480;EAS_FEMALE_N_HET=1;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=0.997921;EAS_FEMALE_FREQ_HET=0.002079;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7124;EUR_AC=189;EUR_AF=0.02653;EUR_N_BI_GENOS=3562;EUR_N_HOMREF=3381;EUR_N_HET=173;EUR_N_HOMALT=8;EUR_FREQ_HOMREF=0.949186;EUR_FREQ_HET=0.0485682;EUR_FREQ_HOMALT=0.00224593;EUR_MALE_AN=3168;EUR_MALE_AC=92;EUR_MALE_AF=0.02904;EUR_MALE_N_BI_GENOS=1584;EUR_MALE_N_HOMREF=1496;EUR_MALE_N_HET=84;EUR_MALE_N_HOMALT=4;EUR_MALE_FREQ_HOMREF=0.944444;EUR_MALE_FREQ_HET=0.0530303;EUR_MALE_FREQ_HOMALT=0.00252525;EUR_FEMALE_AN=3940;EUR_FEMALE_AC=97;EUR_FEMALE_AF=0.024619;EUR_FEMALE_N_BI_GENOS=1970;EUR_FEMALE_N_HOMREF=1877;EUR_FEMALE_N_HET=89;EUR_FEMALE_N_HOMALT=4;EUR_FEMALE_FREQ_HOMREF=0.952792;EUR_FEMALE_FREQ_HET=0.0451777;EUR_FEMALE_FREQ_HOMALT=0.00203046;OTH_AN=174;OTH_AC=1;OTH_AF=0.005747;OTH_N_BI_GENOS=87;OTH_N_HOMREF=86;OTH_N_HET=1;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.988506;OTH_FREQ_HET=0.0114943;OTH_FREQ_HOMALT=0;OTH_MALE_AN=72;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=36;OTH_MALE_N_HOMREF=36;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=102;OTH_FEMALE_AC=1;OTH_FEMALE_AF=0.009804;OTH_FEMALE_N_BI_GENOS=51;OTH_FEMALE_N_HOMREF=50;OTH_FEMALE_N_HET=1;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=0.980392;OTH_FEMALE_FREQ_HET=0.0196078;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.02653 | |
| 398 1 746764 gnomAD-SV_v2.1_DEL_1_36 N <DEL> 557 PASS END=747331;SVTYPE=DEL;SVLEN=567;ALGORITHMS=delly,manta;BOTHSIDES_SUPPORT;EVIDENCE=RD,SR;PROTEIN_CODING__INTERGENIC;PROTEIN_CODING__NEAREST_TSS=AL669831.1;AN=21694;AC=35;AF=0.001613;N_BI_GENOS=10847;N_HOMREF=10812;N_HET=35;N_HOMALT=0;FREQ_HOMREF=0.996773;FREQ_HET=0.0032267;FREQ_HOMALT=0;MALE_AN=11056;MALE_AC=18;MALE_AF=0.001628;MALE_N_BI_GENOS=5528;MALE_N_HOMREF=5510;MALE_N_HET=18;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.996744;MALE_FREQ_HET=0.00325615;MALE_FREQ_HOMALT=0;FEMALE_AN=10592;FEMALE_AC=17;FEMALE_AF=0.001605;FEMALE_N_BI_GENOS=5296;FEMALE_N_HOMREF=5279;FEMALE_N_HET=17;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.99679;FEMALE_FREQ_HET=0.00320997;FEMALE_FREQ_HOMALT=0;AFR_AN=9534;AFR_AC=35;AFR_AF=0.003671;AFR_N_BI_GENOS=4767;AFR_N_HOMREF=4732;AFR_N_HET=35;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.992658;AFR_FREQ_HET=0.00734214;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5230;AFR_MALE_AC=18;AFR_MALE_AF=0.003442;AFR_MALE_N_BI_GENOS=2615;AFR_MALE_N_HOMREF=2597;AFR_MALE_N_HET=18;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.993117;AFR_MALE_FREQ_HET=0.00688337;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=17;AFR_FEMALE_AF=0.003961;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2129;AFR_FEMALE_N_HET=17;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.992078;AFR_FEMALE_FREQ_HET=0.00792172;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1930;AMR_AC=0;AMR_AF=0;AMR_N_BI_GENOS=965;AMR_N_HOMREF=965;AMR_N_HET=0;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=1;AMR_FREQ_HET=0;AMR_FREQ_HOMALT=0;AMR_MALE_AN=960;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=480;AMR_MALE_N_HOMREF=480;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=962;AMR_FEMALE_AC=0;AMR_FEMALE_AF=0;AMR_FEMALE_N_BI_GENOS=481;AMR_FEMALE_N_HOMREF=481;AMR_FEMALE_N_HET=0;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=1;AMR_FEMALE_FREQ_HET=0;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=0;EAS_AF=0;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1208;EAS_N_HET=0;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=1;EAS_FREQ_HET=0;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=0;EAS_MALE_AF=0;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=694;EAS_MALE_N_HET=0;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=1;EAS_MALE_FREQ_HET=0;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3812;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3402;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1701;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2102;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=190;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=95;OTH_N_HOMREF=95;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=38;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.003671 | |
| 399 1 750055 gnomAD-SV_v2.1_BND_1_13 N <BND> 842 UNRESOLVED END=750056;SVTYPE=BND;SVLEN=-1;CHR2=2;POS2=750055;END2=750056;ALGORITHMS=manta;EVIDENCE=PE;UNRESOLVED_TYPE=SINGLE_ENDER_--;AN=21328;AC=2;AF=9.4e-05;N_BI_GENOS=10664;N_HOMREF=10662;N_HET=2;N_HOMALT=0;FREQ_HOMREF=0.999812;FREQ_HET=0.000187547;FREQ_HOMALT=0;MALE_AN=10852;MALE_AC=1;MALE_AF=9.2e-05;MALE_N_BI_GENOS=5426;MALE_N_HOMREF=5425;MALE_N_HET=1;MALE_N_HOMALT=0;MALE_FREQ_HOMREF=0.999816;MALE_FREQ_HET=0.000184298;MALE_FREQ_HOMALT=0;FEMALE_AN=10430;FEMALE_AC=1;FEMALE_AF=9.6e-05;FEMALE_N_BI_GENOS=5215;FEMALE_N_HOMREF=5214;FEMALE_N_HET=1;FEMALE_N_HOMALT=0;FEMALE_FREQ_HOMREF=0.999808;FEMALE_FREQ_HET=0.000191755;FEMALE_FREQ_HOMALT=0;AFR_AN=9370;AFR_AC=0;AFR_AF=0;AFR_N_BI_GENOS=4685;AFR_N_HOMREF=4685;AFR_N_HET=0;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=1;AFR_FREQ_HET=0;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5132;AFR_MALE_AC=0;AFR_MALE_AF=0;AFR_MALE_N_BI_GENOS=2566;AFR_MALE_N_HOMREF=2566;AFR_MALE_N_HET=0;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=1;AFR_MALE_FREQ_HET=0;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4226;AFR_FEMALE_AC=0;AFR_FEMALE_AF=0;AFR_FEMALE_N_BI_GENOS=2113;AFR_FEMALE_N_HOMREF=2113;AFR_FEMALE_N_HET=0;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=1;AFR_FEMALE_FREQ_HET=0;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1900;AMR_AC=1;AMR_AF=0.000526;AMR_N_BI_GENOS=950;AMR_N_HOMREF=949;AMR_N_HET=1;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.998947;AMR_FREQ_HET=0.00105263;AMR_FREQ_HOMALT=0;AMR_MALE_AN=942;AMR_MALE_AC=0;AMR_MALE_AF=0;AMR_MALE_N_BI_GENOS=471;AMR_MALE_N_HOMREF=471;AMR_MALE_N_HET=0;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=1;AMR_MALE_FREQ_HET=0;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=950;AMR_FEMALE_AC=1;AMR_FEMALE_AF=0.001053;AMR_FEMALE_N_BI_GENOS=475;AMR_FEMALE_N_HOMREF=474;AMR_FEMALE_N_HET=1;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.997895;AMR_FEMALE_FREQ_HET=0.00210526;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2384;EAS_AC=1;EAS_AF=0.000419;EAS_N_BI_GENOS=1192;EAS_N_HOMREF=1191;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999161;EAS_FREQ_HET=0.000838926;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1370;EAS_MALE_AC=1;EAS_MALE_AF=0.00073;EAS_MALE_N_BI_GENOS=685;EAS_MALE_N_HOMREF=684;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.99854;EAS_MALE_FREQ_HET=0.00145985;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1006;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=503;EAS_FEMALE_N_HOMREF=503;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7486;EUR_AC=0;EUR_AF=0;EUR_N_BI_GENOS=3743;EUR_N_HOMREF=3743;EUR_N_HET=0;EUR_N_HOMALT=0;EUR_FREQ_HOMREF=1;EUR_FREQ_HET=0;EUR_FREQ_HOMALT=0;EUR_MALE_AN=3334;EUR_MALE_AC=0;EUR_MALE_AF=0;EUR_MALE_N_BI_GENOS=1667;EUR_MALE_N_HOMREF=1667;EUR_MALE_N_HET=0;EUR_MALE_N_HOMALT=0;EUR_MALE_FREQ_HOMREF=1;EUR_MALE_FREQ_HET=0;EUR_MALE_FREQ_HOMALT=0;EUR_FEMALE_AN=4134;EUR_FEMALE_AC=0;EUR_FEMALE_AF=0;EUR_FEMALE_N_BI_GENOS=2067;EUR_FEMALE_N_HOMREF=2067;EUR_FEMALE_N_HET=0;EUR_FEMALE_N_HOMALT=0;EUR_FEMALE_FREQ_HOMREF=1;EUR_FEMALE_FREQ_HET=0;EUR_FEMALE_FREQ_HOMALT=0;OTH_AN=188;OTH_AC=0;OTH_AF=0;OTH_N_BI_GENOS=94;OTH_N_HOMREF=94;OTH_N_HET=0;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=1;OTH_FREQ_HET=0;OTH_FREQ_HOMALT=0;OTH_MALE_AN=74;OTH_MALE_AC=0;OTH_MALE_AF=0;OTH_MALE_N_BI_GENOS=37;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=0;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=1;OTH_MALE_FREQ_HET=0;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.000526 | |
| 400 1 754260 gnomAD-SV_v2.1_DUP_1_35 N <DUP> 999 PASS END=857641;SVTYPE=DUP;SVLEN=103381;ALGORITHMS=delly,depth;BOTHSIDES_SUPPORT;EVIDENCE=BAF,PE,RD,SR;PROTEIN_CODING__COPY_GAIN=AL645608.2;AN=21686;AC=99;AF=0.004565;N_BI_GENOS=10843;N_HOMREF=10746;N_HET=95;N_HOMALT=2;FREQ_HOMREF=0.991054;FREQ_HET=0.00876141;FREQ_HOMALT=0.000184451;MALE_AN=11050;MALE_AC=52;MALE_AF=0.004706;MALE_N_BI_GENOS=5525;MALE_N_HOMREF=5474;MALE_N_HET=50;MALE_N_HOMALT=1;MALE_FREQ_HOMREF=0.990769;MALE_FREQ_HET=0.00904977;MALE_FREQ_HOMALT=0.000180995;FEMALE_AN=10590;FEMALE_AC=47;FEMALE_AF=0.004438;FEMALE_N_BI_GENOS=5295;FEMALE_N_HOMREF=5249;FEMALE_N_HET=45;FEMALE_N_HOMALT=1;FEMALE_FREQ_HOMREF=0.991313;FEMALE_FREQ_HET=0.00849858;FEMALE_FREQ_HOMALT=0.000188857;AFR_AN=9530;AFR_AC=38;AFR_AF=0.003987;AFR_N_BI_GENOS=4765;AFR_N_HOMREF=4727;AFR_N_HET=38;AFR_N_HOMALT=0;AFR_FREQ_HOMREF=0.992025;AFR_FREQ_HET=0.00797482;AFR_FREQ_HOMALT=0;AFR_MALE_AN=5226;AFR_MALE_AC=21;AFR_MALE_AF=0.004018;AFR_MALE_N_BI_GENOS=2613;AFR_MALE_N_HOMREF=2592;AFR_MALE_N_HET=21;AFR_MALE_N_HOMALT=0;AFR_MALE_FREQ_HOMREF=0.991963;AFR_MALE_FREQ_HET=0.00803674;AFR_MALE_FREQ_HOMALT=0;AFR_FEMALE_AN=4292;AFR_FEMALE_AC=17;AFR_FEMALE_AF=0.003961;AFR_FEMALE_N_BI_GENOS=2146;AFR_FEMALE_N_HOMREF=2129;AFR_FEMALE_N_HET=17;AFR_FEMALE_N_HOMALT=0;AFR_FEMALE_FREQ_HOMREF=0.992078;AFR_FEMALE_FREQ_HET=0.00792172;AFR_FEMALE_FREQ_HOMALT=0;AMR_AN=1926;AMR_AC=8;AMR_AF=0.004154;AMR_N_BI_GENOS=963;AMR_N_HOMREF=955;AMR_N_HET=8;AMR_N_HOMALT=0;AMR_FREQ_HOMREF=0.991693;AMR_FREQ_HET=0.00830737;AMR_FREQ_HOMALT=0;AMR_MALE_AN=958;AMR_MALE_AC=3;AMR_MALE_AF=0.003132;AMR_MALE_N_BI_GENOS=479;AMR_MALE_N_HOMREF=476;AMR_MALE_N_HET=3;AMR_MALE_N_HOMALT=0;AMR_MALE_FREQ_HOMREF=0.993737;AMR_MALE_FREQ_HET=0.00626305;AMR_MALE_FREQ_HOMALT=0;AMR_FEMALE_AN=960;AMR_FEMALE_AC=5;AMR_FEMALE_AF=0.005208;AMR_FEMALE_N_BI_GENOS=480;AMR_FEMALE_N_HOMREF=475;AMR_FEMALE_N_HET=5;AMR_FEMALE_N_HOMALT=0;AMR_FEMALE_FREQ_HOMREF=0.989583;AMR_FEMALE_FREQ_HET=0.0104167;AMR_FEMALE_FREQ_HOMALT=0;EAS_AN=2416;EAS_AC=1;EAS_AF=0.000414;EAS_N_BI_GENOS=1208;EAS_N_HOMREF=1207;EAS_N_HET=1;EAS_N_HOMALT=0;EAS_FREQ_HOMREF=0.999172;EAS_FREQ_HET=0.000827815;EAS_FREQ_HOMALT=0;EAS_MALE_AN=1388;EAS_MALE_AC=1;EAS_MALE_AF=0.00072;EAS_MALE_N_BI_GENOS=694;EAS_MALE_N_HOMREF=693;EAS_MALE_N_HET=1;EAS_MALE_N_HOMALT=0;EAS_MALE_FREQ_HOMREF=0.998559;EAS_MALE_FREQ_HET=0.00144092;EAS_MALE_FREQ_HOMALT=0;EAS_FEMALE_AN=1020;EAS_FEMALE_AC=0;EAS_FEMALE_AF=0;EAS_FEMALE_N_BI_GENOS=510;EAS_FEMALE_N_HOMREF=510;EAS_FEMALE_N_HET=0;EAS_FEMALE_N_HOMALT=0;EAS_FEMALE_FREQ_HOMREF=1;EAS_FEMALE_FREQ_HET=0;EAS_FEMALE_FREQ_HOMALT=0;EUR_AN=7624;EUR_AC=51;EUR_AF=0.006689;EUR_N_BI_GENOS=3812;EUR_N_HOMREF=3763;EUR_N_HET=47;EUR_N_HOMALT=2;EUR_FREQ_HOMREF=0.987146;EUR_FREQ_HET=0.0123295;EUR_FREQ_HOMALT=0.000524659;EUR_MALE_AN=3402;EUR_MALE_AC=26;EUR_MALE_AF=0.007643;EUR_MALE_N_BI_GENOS=1701;EUR_MALE_N_HOMREF=1676;EUR_MALE_N_HET=24;EUR_MALE_N_HOMALT=1;EUR_MALE_FREQ_HOMREF=0.985303;EUR_MALE_FREQ_HET=0.0141093;EUR_MALE_FREQ_HOMALT=0.000587889;EUR_FEMALE_AN=4204;EUR_FEMALE_AC=25;EUR_FEMALE_AF=0.005947;EUR_FEMALE_N_BI_GENOS=2102;EUR_FEMALE_N_HOMREF=2078;EUR_FEMALE_N_HET=23;EUR_FEMALE_N_HOMALT=1;EUR_FEMALE_FREQ_HOMREF=0.988582;EUR_FEMALE_FREQ_HET=0.010942;EUR_FEMALE_FREQ_HOMALT=0.000475737;OTH_AN=190;OTH_AC=1;OTH_AF=0.005263;OTH_N_BI_GENOS=95;OTH_N_HOMREF=94;OTH_N_HET=1;OTH_N_HOMALT=0;OTH_FREQ_HOMREF=0.989474;OTH_FREQ_HET=0.0105263;OTH_FREQ_HOMALT=0;OTH_MALE_AN=76;OTH_MALE_AC=1;OTH_MALE_AF=0.013158;OTH_MALE_N_BI_GENOS=38;OTH_MALE_N_HOMREF=37;OTH_MALE_N_HET=1;OTH_MALE_N_HOMALT=0;OTH_MALE_FREQ_HOMREF=0.973684;OTH_MALE_FREQ_HET=0.0263158;OTH_MALE_FREQ_HOMALT=0;OTH_FEMALE_AN=114;OTH_FEMALE_AC=0;OTH_FEMALE_AF=0;OTH_FEMALE_N_BI_GENOS=57;OTH_FEMALE_N_HOMREF=57;OTH_FEMALE_N_HET=0;OTH_FEMALE_N_HOMALT=0;OTH_FEMALE_FREQ_HOMREF=1;OTH_FEMALE_FREQ_HET=0;OTH_FEMALE_FREQ_HOMALT=0;POPMAX_AF=0.006689 |