1-53347303-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347303
    reference: chr 1
allele count: 4
allele frequency: 1.716885569576788e-4
allele num: 23298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.884G>T
  hgvsp: ENSP00000360587.1:p.Arg295Leu
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1910G>T
  hgvsp: ENSP00000360583.1:p.Arg637Leu
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.100C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg637Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

1-53347318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347318
    reference: chr 1
allele count: 3
allele frequency: 1.315904903938942e-4
allele num: 22798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1925G>A
  hgvsp: ENSP00000360583.1:p.Arg642His
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.85C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.899G>A
  hgvsp: ENSP00000360587.1:p.Arg300His
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
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genotype quality: GenotypeQuality
  all individuals: 834
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg642His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

1-53347318-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347318
    reference: chr 1
allele count: 1
allele frequency: 4.386349679796474e-5
allele num: 22798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.899G>T
  hgvsp: ENSP00000360587.1:p.Arg300Leu
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.85C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1925G>T
  hgvsp: ENSP00000360583.1:p.Arg642Leu
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 180
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg642Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-53347319-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347319
    reference: chr 1
allele count: 1
allele frequency: 4.393287057376329e-5
allele num: 22762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.900T>A
  hgvsp: ENST00000371532.1:c.900T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1926T>A
  hgvsp: ENST00000371528.1:c.1926T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.84A>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 313
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genotype quality: GenotypeQuality
  all individuals: 1652
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg642Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-53347331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347331
    reference: chr 1
allele count: 1
allele frequency: 4.541738577527478e-5
allele num: 22018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.912A>G
  hgvsp: ENST00000371532.1:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1938A>G
  hgvsp: ENST00000371528.1:c.1938A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.72T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln646Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-53347335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347335
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347335
    reference: chr 1
allele count: 3
allele frequency: 1.391723881981815e-4
allele num: 21556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.68G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1942C>T
  hgvsp: ENST00000371528.1:c.1942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.916C>T
  hgvsp: ENST00000371532.1:c.916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1942C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-53347367-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347367
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347367
    reference: chr 1
allele count: 3
allele frequency: 1.615508885298869e-4
allele num: 18570
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.36A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1944+30T>G
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.918+30T>G
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 116
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-53347373-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347373
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347373
    reference: chr 1
allele count: 1
allele frequency: 5.52364118426867e-5
allele num: 18104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.918+36G>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1944+36G>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.30C>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 564
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-53347380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53347380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53347380
    reference: chr 1
allele count: 2
allele frequency: 1.168907071887785e-4
allele num: 17110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.918+43C>G
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1944+43C>G
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242391
  ensembl transcript: ENST00000446786
  gene symbol: RP4-631H13.2
  hgvsc: ENST00000446786.2:n.23G>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

1-53351475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351475
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351475
    reference: chr 1
allele count: 1
allele frequency: 4.705882352941177e-5
allele num: 21250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.919-30G>A
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1945-30G>A
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 408
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-53351489-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351487
    reference: chr 1
allele count: 13
allele frequency: 6.05834653742194e-4
allele num: 21458
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1945-15_1945-14delTT
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.919-15_919-14delTT
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 3.866976024748647e-4
  allele num: 7758
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: CTT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-53351522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351522
    reference: chr 1
allele count: 53
allele frequency: 2.445551864156515e-3
allele num: 21672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.936T>C
  hgvsp: ENST00000371532.1:c.936T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1962T>C
  hgvsp: ENST00000371528.1:c.1962T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 263
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn654Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 242
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-53351544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351544
    reference: chr 1
allele count: 2
allele frequency: 9.224241306152569e-5
allele num: 21682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.958A>G
  hgvsp: ENSP00000360587.1:p.Met320Val
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1984A>G
  hgvsp: ENSP00000360583.1:p.Met662Val
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
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genotype quality: GenotypeQuality
  all individuals: 831
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met662Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7912
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-53351548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351548
    reference: chr 1
allele count: 1
allele frequency: 4.611695259177273e-5
allele num: 21684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.962C>T
  hgvsp: ENSP00000360587.1:p.Thr321Ile
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1988C>T
  hgvsp: ENSP00000360583.1:p.Thr663Ile
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
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genotype depth: GenotypeDepth
  all individuals: 141
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genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 3291
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4423
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr663Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7912
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

1-53351550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351550
    reference: chr 1
allele count: 1
allele frequency: 4.612120653076284e-5
allele num: 21682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.964G>A
  hgvsp: ENSP00000360587.1:p.Ala322Thr
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.1990G>A
  hgvsp: ENSP00000360583.1:p.Ala664Thr
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
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genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4422
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
hgvs: p.Ala664Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1624
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-53351562-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351562
    reference: chr 1
allele count: 1
allele frequency: 4.612546125461254e-5
allele num: 21680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.976T>C
  hgvsp: ENSP00000360587.1:p.Tyr326His
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2002T>C
  hgvsp: ENSP00000360583.1:p.Tyr668His
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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genotype depth: GenotypeDepth
  all individuals: 3291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 66
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genotype depth: GenotypeDepth
  all individuals: 1168
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genotype depth: GenotypeDepth
  all individuals: 768
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 141
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genotype depth: GenotypeDepth
  all individuals: 128
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
hgvs: p.Tyr668His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.264862130027827e-4
  allele num: 7906
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-53351594-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351595
    reference: chr 1
allele count: 358
allele frequency: 2.144739995207285e-2
allele num: 16692
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+38dupT
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+38dupT
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 149
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 277
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 42
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 11
  allele frequency: 1.985559566787004e-2
  allele num: 554
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-53351594-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351594
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351593
    reference: chr 1
allele count: 733
allele frequency: 4.391325185717709e-2
allele num: 16692
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+38delT
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+38delT
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 9.75e1
  variant carriers: 519
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.75e1
  variant carriers: 600
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 11
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 36
  allele frequency: 6.498194945848375e-2
  allele num: 554
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: CT
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-53351597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351597
    reference: chr 1
allele count: 2
allele frequency: 9.344921035417251e-5
allele num: 21402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+31T>C
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+31T>C
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 9.328358208955224e-4
  allele num: 2144
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-53351599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351599
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351599
    reference: chr 1
allele count: 2
allele frequency: 9.389671361502347e-5
allele num: 21300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+33T>C
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+33T>C
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 526
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genotype quality: GenotypeQuality
  all individuals: 161
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 620
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-53351608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351608
    reference: chr 1
allele count: 3
allele frequency: 1.450536698578474e-4
allele num: 20682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+42C>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+42C>T
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 416
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 1.401869158878505e-3
  allele num: 2140
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-53351608-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351609
    reference: chr 1
allele count: 3
allele frequency: 1.450536698578474e-4
allele num: 20682
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+50dupT
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+50dupT
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1624
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-53351610-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53351610
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53351610
    reference: chr 1
allele count: 1
allele frequency: 4.838397522740468e-5
allele num: 20668
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2006+44T>G
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.980+44T>G
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1624
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-53352590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352590
    reference: chr 1
allele count: 1
allele frequency: 4.604475550234829e-5
allele num: 21718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-38G>A
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-38G>A
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 242
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-53352596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352596
    reference: chr 1
allele count: 1
allele frequency: 4.601509295048776e-5
allele num: 21732
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-32G>A
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-32G>A
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 616
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-53352602-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352602
    reference: chr 1
allele count: 1
allele frequency: 4.590525156077855e-5
allele num: 21784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-26C>A
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-26C>A
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 616
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

1-53352602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352602
    reference: chr 1
allele count: 1
allele frequency: 4.590525156077855e-5
allele num: 21784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-26C>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-26C>T
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 428
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.128923007450892e-4
  allele num: 8858
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

1-53352612-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352613
    reference: chr 1
allele count: 1
allele frequency: 4.639079606606049e-5
allele num: 21556
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-8dupT
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-8dupT
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1626
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

1-53352612-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352611
    reference: chr 1
allele count: 10
allele frequency: 4.639079606606049e-4
allele num: 21556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-8delT
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-8delT
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2953
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 606
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-53352618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352618
    reference: chr 1
allele count: 1
allele frequency: 4.536381781890764e-5
allele num: 22044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.981-10T>C
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2007-10T>C
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 242
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-53352648-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352648
    reference: chr 1
allele count: 1
allele frequency: 4.464285714285714e-5
allele num: 22400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2027C>T
  hgvsp: ENSP00000360583.1:p.Pro676Leu
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1001C>T
  hgvsp: ENSP00000360587.1:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 410
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2948
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
hgvs: p.Pro676Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 242
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-53352666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352666
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352666
    reference: chr 1
allele count: 1
allele frequency: 4.441680731988984e-5
allele num: 22514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1019C>T
  hgvsp: ENSP00000360587.1:p.Ser340Phe
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2045C>T
  hgvsp: ENSP00000360583.1:p.Ser682Phe
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ser682Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 618
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-53352682-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352682
    reference: chr 1
allele count: 1
allele frequency: 4.436163605713778e-5
allele num: 22542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1035G>C
  hgvsp: ENSP00000360587.1:p.Gln345His
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2061G>C
  hgvsp: ENSP00000360583.1:p.Gln687His
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gln687His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2278
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-53352694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352694
    reference: chr 1
allele count: 1
allele frequency: 4.444444444444445e-5
allele num: 22500
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2073A>G
  hgvsp: ENST00000371528.1:c.2073A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1047A>G
  hgvsp: ENST00000371532.1:c.1047A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu691Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 592
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-53352697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352697
    reference: chr 1
allele count: 1
allele frequency: 4.4499822000712e-5
allele num: 22472
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2076G>A
  hgvsp: ENSP00000360583.1:p.Trp692Ter
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1050G>A
  hgvsp: ENSP00000360587.1:p.Trp350Ter
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 316
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genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp692Ter
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 246
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-53352701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352701
    reference: chr 1
allele count: 1
allele frequency: 4.45632798573975e-5
allele num: 22440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1054A>G
  hgvsp: ENSP00000360587.1:p.Met352Val
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2080A>G
  hgvsp: ENSP00000360583.1:p.Met694Val
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2523
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 312
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met694Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1658
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

1-53352712-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352712
    reference: chr 1
allele count: 1
allele frequency: 4.482696790389098e-5
allele num: 22308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1065C>G
  hgvsp: ENST00000371532.1:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2091C>G
  hgvsp: ENST00000371528.1:c.2091C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 600
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 305
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  variant carriers: 0
hgvs: p.Val697Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2256
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-53352723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352723
    reference: chr 1
allele count: 1
allele frequency: 4.531448250860975e-5
allele num: 22068
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2102A>G
  hgvsp: ENSP00000360583.1:p.Asn701Ser
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1076A>G
  hgvsp: ENSP00000360587.1:p.Asn359Ser
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1002
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn701Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-53352726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352726
    reference: chr 1
allele count: 1
allele frequency: 4.547521600727603e-5
allele num: 21990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2104+1G>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1078+1G>T
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1004
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 288
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
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  variant carriers: 0
hgvs: c.2104+1G>T
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 242
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-53352763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352763
    reference: chr 1
allele count: 1
allele frequency: 4.839802536056529e-5
allele num: 20662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2104+38C>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1078+38C>T
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1994
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-53352764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53352764
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53352764
    reference: chr 1
allele count: 4
allele frequency: 1.940052381414298e-4
allele num: 20618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1078+39C>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2104+39C>T
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 236
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-53358404-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358404
    reference: chr 1
allele count: 2
allele frequency: 1.001001001001001e-4
allele num: 19980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1079-50A>T
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2105-50A>T
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1624
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

1-53358443-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358443
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358443
    reference: chr 1
allele count: 2
allele frequency: 9.46880030300161e-5
allele num: 21122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1079-11T>G
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2105-11T>G
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1624
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-53358479-TGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358476
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 21644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2138_2140delAAG
  hgvsp: ENSP00000360583.1:p.Glu713del
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1112_1114delAAG
  hgvsp: ENSP00000360587.1:p.Glu371del
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu713del
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8696
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: TGAA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-53358521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358521
    reference: chr 1
allele count: 1
allele frequency: 4.606596646397641e-5
allele num: 21708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2172C>G
  hgvsp: ENSP00000360583.1:p.His724Gln
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1146C>G
  hgvsp: ENSP00000360587.1:p.His382Gln
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His724Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 408
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-53358521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358521
    reference: chr 1
allele count: 1
allele frequency: 4.606596646397641e-5
allele num: 21708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1146C>T
  hgvsp: ENST00000371532.1:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2172C>T
  hgvsp: ENST00000371528.1:c.2172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1398
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 293
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His724His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 622
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

1-53358534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358534
    reference: chr 1
allele count: 1
allele frequency: 4.604475550234829e-5
allele num: 21718
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2185C>T
  hgvsp: ENSP00000360583.1:p.Pro729Ser
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1159C>T
  hgvsp: ENSP00000360587.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro729Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 242
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

1-53358589-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358589
    reference: chr 1
allele count: 1
allele frequency: 4.657661853749418e-5
allele num: 21470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1214T>C
  hgvsp: ENSP00000360587.1:p.Met405Thr
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2240T>C
  hgvsp: ENSP00000360583.1:p.Met747Thr
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met747Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 238
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

1-53358590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358590
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358590
    reference: chr 1
allele count: 6
allele frequency: 2.797724517392521e-4
allele num: 21446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2241G>A
  hgvsp: ENSP00000360583.1:p.Met747Ile
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1215G>A
  hgvsp: ENSP00000360587.1:p.Met405Ile
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 295
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Met747Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7862
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-53358606-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358606
    reference: chr 1
allele count: 5
allele frequency: 2.349844910235924e-4
allele num: 21278
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.2257A>C
  hgvsp: ENSP00000360583.1:p.Thr753Pro
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.1231A>C
  hgvsp: ENSP00000360587.1:p.Thr411Pro
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr753Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 592
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-53358647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358647
    reference: chr 1
allele count: 1
allele frequency: 4.968697207592169e-5
allele num: 20126
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.*18G>C
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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genotype depth: GenotypeDepth
  all individuals: 1236
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1632
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

1-53358665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358665
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358665
    reference: chr 1
allele count: 1
allele frequency: 5.083884087442806e-5
allele num: 19670
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.*36A>G
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.*36A>G
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 222
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-53358666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53358666
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53358666
    reference: chr 1
allele count: 1
allele frequency: 5.121376626037079e-5
allele num: 19526
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360583
  ensembl transcript: ENST00000371528
  gene symbol: ZYG11A
  hgvsc: ENST00000371528.1:c.*37T>C
  variant of: http://identifiers.org/hgnc/32058
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000203995
  ensembl protein: ENSP00000360587
  ensembl transcript: ENST00000371532
  gene symbol: ZYG11A
  hgvsc: ENST00000371532.1:c.*37T>C
  variant of: http://identifiers.org/hgnc/32058
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1872
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-53362144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362144
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1143G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.*48G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.752G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2396G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.423G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.*48G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1138G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2116G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.315G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5570G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS

1-53362157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362157
    reference: chr 1
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.*35C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.410C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1125C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2383C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.*35C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.302C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1130C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5557C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.739C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2103C>T
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-53362163-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362163
    reference: chr 1
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5551T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.*29T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.296T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.733T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.404T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2097T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2377T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.*29T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.*29T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1119T>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1124T>G
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-53362164-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362164
    reference: chr 1
allele count: 1771
allele frequency: 1.461100569259962e-2
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.*28A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.403A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.*28A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.295A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1123A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.*28A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5550A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1118A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2096A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2376A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.732A>C
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 23106
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 4.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 3.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 125
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-53362165-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362166
    reference: chr 1
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.*26dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.730dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.401dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1121dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1116dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5548dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.*26dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.*26dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.293dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2094dupA
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2374dupA
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-53362167-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362167
    reference: chr 1
allele count: 3
allele frequency: 2.474920802534319e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.*25G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.400G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2373G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.*25G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1120G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.*25G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5547G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2093G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.292G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1115G>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.729G>T
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-53362196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362196
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5518A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.737A>G
  hgvsp: ENSP00000439264.1:p.Lys246Arg
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1091A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.875A>G
  hgvsp: ENSP00000360577.4:p.Lys292Arg
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2344A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.263A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.371A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.700A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2064A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1086A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.782A>G
  hgvsp: ENSP00000351125.5:p.Lys261Arg
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-53362200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362200
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362200
    reference: chr 1
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1087G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.259G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1082G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.778G>A
  hgvsp: ENSP00000351125.5:p.Gly260Ser
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.871G>A
  hgvsp: ENSP00000360577.4:p.Gly291Ser
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5514G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.733G>A
  hgvsp: ENSP00000439264.1:p.Gly245Ser
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2340G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.367G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.696G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2060G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly291Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-53362202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362202
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362202
    reference: chr 1
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.257T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1080T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.776T>C
  hgvsp: ENSP00000351125.5:p.Val259Ala
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.731T>C
  hgvsp: ENSP00000439264.1:p.Val244Ala
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5512T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.869T>C
  hgvsp: ENSP00000360577.4:p.Val290Ala
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.365T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.694T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1085T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2338T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2058T>C
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val290Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-53362203-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362203
    reference: chr 1
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.364G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.775G>C
  hgvsp: ENSP00000351125.5:p.Val259Leu
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.868G>C
  hgvsp: ENSP00000360577.4:p.Val290Leu
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1079G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5511G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.730G>C
  hgvsp: ENSP00000439264.1:p.Val244Leu
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.693G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1084G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2337G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.256G>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2057G>C
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val290Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-53362203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362203
    reference: chr 1
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.256G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.693G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.730G>A
  hgvsp: ENSP00000439264.1:p.Val244Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2337G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.775G>A
  hgvsp: ENSP00000351125.5:p.Val259Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.868G>A
  hgvsp: ENSP00000360577.4:p.Val290Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.364G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2057G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5511G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1084G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1079G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val290Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-53362208-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362208
    reference: chr 1
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2052A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.688A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.359A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.863A>C
  hgvsp: ENSP00000360577.4:p.Lys288Thr
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5506A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.770A>C
  hgvsp: ENSP00000351125.5:p.Lys257Thr
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.725A>C
  hgvsp: ENSP00000439264.1:p.Lys242Thr
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1074A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1079A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2332A>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.251A>C
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys288Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-53362214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362214
    reference: chr 1
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.764C>T
  hgvsp: ENSP00000351125.5:p.Thr255Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.245C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2326C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1073C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5500C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.682C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.353C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1068C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.857C>T
  hgvsp: ENSP00000360577.4:p.Thr286Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.719C>T
  hgvsp: ENSP00000439264.1:p.Thr240Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2046C>T
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr286Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-53362217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362217
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362217
    reference: chr 1
allele count: 3
allele frequency: 2.474390062849507e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2043G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1065G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.716G>A
  hgvsp: ENSP00000439264.1:p.Arg239Gln
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.854G>A
  hgvsp: ENSP00000360577.4:p.Arg285Gln
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2323G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.242G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1070G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.761G>A
  hgvsp: ENSP00000351125.5:p.Arg254Gln
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5497G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.679G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.350G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg285Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-53362218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362218
    reference: chr 1
allele count: 2
allele frequency: 1.649566164098842e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5496C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1064C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.715C>T
  hgvsp: ENSP00000439264.1:p.Arg239Trp
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.349C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.760C>T
  hgvsp: ENSP00000351125.5:p.Arg254Trp
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1069C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2322C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.853C>T
  hgvsp: ENSP00000360577.4:p.Arg285Trp
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2042C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.678C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.241C>T
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg285Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-53362220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362220
    reference: chr 1
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.347A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1062A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1067A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.851A>G
  hgvsp: ENSP00000360577.4:p.Lys284Arg
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2320A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.713A>G
  hgvsp: ENSP00000439264.1:p.Lys238Arg
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.758A>G
  hgvsp: ENSP00000351125.5:p.Lys253Arg
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5494A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479593
  gene symbol: ECHDC2
  hgvsc: ENST00000479593.1:n.766A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2040A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.239A>G
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.676A>G
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys284Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-53362237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362237
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5477G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.696G>A
  hgvsp: ENSP00000439264.1:p.Met232Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.659G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.330G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.741G>A
  hgvsp: ENSP00000351125.5:p.Met247Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1050G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.834G>A
  hgvsp: ENSP00000360577.4:p.Met278Ile
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479593
  gene symbol: ECHDC2
  hgvsc: ENST00000479593.1:n.749G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2023G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1045G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.222G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2303G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met278Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

1-53362238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362238
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362238
    reference: chr 1
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2302T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.221T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.658T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1044T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1049T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.329T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.833T>C
  hgvsp: ENSP00000360577.4:p.Met278Thr
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.695T>C
  hgvsp: ENSP00000439264.1:p.Met232Thr
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2022T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.740T>C
  hgvsp: ENSP00000351125.5:p.Met247Thr
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479593
  gene symbol: ECHDC2
  hgvsc: ENST00000479593.1:n.748T>C
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5476T>C
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met278Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-53362240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362240
    reference: chr 1
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2300C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5474C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1047C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479593
  gene symbol: ECHDC2
  hgvsc: ENST00000479593.1:n.746C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.327C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1042C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.656C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.831C>T
  hgvsp: ENST00000371522.4:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.738C>T
  hgvsp: ENST00000358358.5:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.693C>T
  hgvsp: ENST00000536120.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2020C>T
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.219C>T
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly277Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

1-53362243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362243
    reference: chr 1
allele count: 3
allele frequency: 2.476596166229135e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2017G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.690G>A
  hgvsp: ENST00000536120.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.653G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1039G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1044G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.828G>A
  hgvsp: ENST00000371522.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.735G>A
  hgvsp: ENST00000358358.5:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.216G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5471G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479593
  gene symbol: ECHDC2
  hgvsc: ENST00000479593.1:n.743G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2297G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.324G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu276Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

1-53362245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53362245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53362245
    reference: chr 1
allele count: 105
allele frequency: 8.930242052084574e-4
allele num: 117578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479183
  gene symbol: ECHDC2
  hgvsc: ENST00000479183.2:n.2015G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000539680
  gene symbol: ECHDC2
  hgvsc: ENST00000539680.1:n.5469G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000439264
  ensembl transcript: ENST00000536120
  gene symbol: ECHDC2
  hgvsc: ENST00000536120.1:c.688G>A
  hgvsp: ENSP00000439264.1:p.Glu230Lys
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000479593
  gene symbol: ECHDC2
  hgvsc: ENST00000479593.1:n.741G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000498544
  gene symbol: ECHDC2
  hgvsc: ENST00000498544.1:n.651G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000446190
  ensembl transcript: ENST00000476477
  gene symbol: ECHDC2
  hgvsc: ENST00000476477.2:c.*1042G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000460612
  gene symbol: ECHDC2
  hgvsc: ENST00000460612.1:n.2295G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360575
  ensembl transcript: ENST00000371520
  gene symbol: ECHDC2
  hgvsc: ENST00000371520.1:c.*1037G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000360577
  ensembl transcript: ENST00000371522
  gene symbol: ECHDC2
  hgvsc: ENST00000371522.4:c.826G>A
  hgvsp: ENSP00000360577.4:p.Glu276Lys
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000121310
  ensembl protein: ENSP00000351125
  ensembl transcript: ENST00000358358
  gene symbol: ECHDC2
  hgvsc: ENST00000358358.5:c.733G>A
  hgvsp: ENSP00000351125.5:p.Glu245Lys
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000463923
  gene symbol: ECHDC2
  hgvsc: ENST00000463923.1:n.322G>A
  variant of: http://identifiers.org/hgnc/23408
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000121310
  ensembl transcript: ENST00000543419
  gene symbol: ECHDC2
  hgvsc: ENST00000543419.1:n.214G>A
  variant of: http://identifiers.org/hgnc/23408
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16499
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: p.Glu276Lys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C

GenotypeQuality
all individuals: 907
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.035512510088781e-4
allele num: 9912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.52413e5

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.201923076923077e-3
allele num: 2496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 7.521e0

DP
type: SiteQuality
SIO_000300: 3.43746e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

DP
type: SiteQuality
SIO_000300: 3.43746e5

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

GenotypeQuality
all individuals: 260
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.00962309542903e-4
allele num: 2494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

FS
type: SiteQuality
SIO_000300: 2.835e0

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 3.42877e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.615e0

QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.29989e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.824e0

FS
type: SiteQuality
SIO_000300: 6.437e0

QD
type: SiteQuality
SIO_000300: 1.437e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.752336448598131e-3
allele num: 1712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2442
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -3.566e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 8.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.074e0

DP
type: SiteQuality
SIO_000300: 3.22917e5

Latino
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allele count: 2
allele frequency: 5.0e-3
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 2.025111381125962e-4
allele num: 4938
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East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.66151e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 206
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East Asian
type: Population
allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2252
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.195600191296031e-4
allele num: 8364
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Latino
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allele frequency: 0.0e0
allele num: 394
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.60393e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1650
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African
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allele count: 1
allele frequency: 4.570383912248629e-4
allele num: 2188
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.237930180737806e-4
allele num: 8078
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East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4032
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

FS
type: SiteQuality
SIO_000300: 5.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.624e1

DP
type: SiteQuality
SIO_000300: 2.54068e5

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
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East Asian
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allele num: 618
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.426e0

African
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allele frequency: 4.655493482309125e-4
allele num: 2148
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European (Non-Finnish)
type: Population
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allele num: 8664
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1624
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Latino
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allele count: 9
allele frequency: 2.205882352941177e-2
allele num: 408
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 618
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Other
type: Population
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allele num: 238
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
type: SiteQuality
SIO_000300: 7.9413e5

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

South Asian
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allele frequency: 1.264222503160556e-3
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European (Non-Finnish)
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allele count: 26
allele frequency: 2.983019733822854e-3
allele num: 8716
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East Asian
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European (Finnish)
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allele count: 14
allele frequency: 8.620689655172414e-3
allele num: 1624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 3
allele frequency: 1.396648044692737e-3
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MQ
type: SiteQuality
SIO_000300: 5.874e1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

DP
type: SiteQuality
SIO_000300: 8.02647e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

East Asian
type: Population
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African
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allele frequency: 0.0e0
allele num: 2148
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.292526364053187e-4
allele num: 8724
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Other
type: Population
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allele num: 242
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1624
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DP
type: SiteQuality
SIO_000300: 7.97834e5

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 410
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European (Non-Finnish)
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allele frequency: 1.146000458400183e-4
allele num: 8726
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East Asian
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Other
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European (Finnish)
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African
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DP
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.441e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.919e0

MQ
type: SiteQuality
SIO_000300: 5.785e1

Latino
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allele num: 410
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East Asian
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African
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allele frequency: 4.655493482309125e-4
allele num: 2148
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.822e1

ReadPosRankSum
type: SiteQuality
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FS
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DP
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.827e0

Latino
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allele num: 410
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European (Non-Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
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Other
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

Latino
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allele frequency: 1.11731843575419e-2
allele num: 358
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European (Finnish)
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African
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allele frequency: 7.092198581560284e-3
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South Asian
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allele count: 234
allele frequency: 5.10248582642826e-2
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European (Non-Finnish)
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allele count: 90
allele frequency: 1.214902807775378e-2
allele num: 7408
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Other
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQ
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SIO_000300: 5.883e1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.12e-2

European (Non-Finnish)
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allele count: 571
allele frequency: 7.707883369330454e-2
allele num: 7408
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African
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allele frequency: 2.380952380952381e-2
allele num: 1974
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Other
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allele frequency: 2.659574468085106e-2
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South Asian
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allele count: 61
allele frequency: 1.330135194068905e-2
allele num: 4586
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European (Finnish)
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allele count: 1
allele frequency: 6.157635467980296e-4
allele num: 1624
num of homozygotes: 0

Latino
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allele count: 12
allele frequency: 3.35195530726257e-2
allele num: 358
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DP
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

FS
type: SiteQuality
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QD
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.12e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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Latino
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -4.7e-3

MQ
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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SIO_000300: -2.054e0

European (Finnish)
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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allele num: 8628
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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SIO_000300: 1.88e0

Latino
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.255e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

DP
type: SiteQuality
SIO_000300: 7.12242e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.104e0

FS
type: SiteQuality
SIO_000300: 8.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
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African
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allele frequency: 1.401869158878505e-3
allele num: 2140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

DP
type: SiteQuality
SIO_000300: 7.12242e5

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.255e1

FS
type: SiteQuality
SIO_000300: 8.301e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.104e0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
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African
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allele frequency: 0.0e0
allele num: 2138
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South Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 7.07762e5

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 7.756e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.655493482309125e-4
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.262e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.533e0

DP
type: SiteQuality
SIO_000300: 4.40077e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.197e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.269680040629761e-4
allele num: 7876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -2.247e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.746e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.42975e5

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.128923007450892e-4
allele num: 8858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.85e0

DP
type: SiteQuality
SIO_000300: 4.46667e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 6.077e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.216e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

QD
type: SiteQuality
SIO_000300: 8.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 6.077e0

VQSLOD
type: SiteQuality
SIO_000300: -4.216e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 4.46667e5

MQ
type: SiteQuality
SIO_000300: 5.978e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.309243257397224e-4
allele num: 7638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 4.60266e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.089e0

FS
type: SiteQuality
SIO_000300: 3.593e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

South Asian
type: Population
allele count: 1
allele frequency: 1.309243257397224e-4
allele num: 7638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.012829169480081e-3
allele num: 8886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

QD
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 3.593e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: -1.089e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

DP
type: SiteQuality
SIO_000300: 4.60266e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.103996467211305e-4
allele num: 9058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
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MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.321e0

VQSLOD
type: SiteQuality
SIO_000300: -7.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

QD
type: SiteQuality
SIO_000300: 1.535e1

DP
type: SiteQuality
SIO_000300: 4.51796e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
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South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 1.258e0

DP
type: SiteQuality
SIO_000300: 4.56576e5

VQSLOD
type: SiteQuality
SIO_000300: -2.838e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 3.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 1
allele frequency: 4.393673110720562e-4
allele num: 2276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.006e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.756e0

DP
type: SiteQuality
SIO_000300: 4.5757e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.412e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.060670343657191e-4
allele num: 9428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 8.436e0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 4.57326e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.064056182166418e-4
allele num: 9398
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.46e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.282e1

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 4.56281e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.994e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.065643648763853e-4
allele num: 9384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 9.59e0

FS
type: SiteQuality
SIO_000300: 1.956e0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 4.55951e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.06700810926163e-4
allele num: 9372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 4.5503e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.153e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.076194575979337e-4
allele num: 9292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

FS
type: SiteQuality
SIO_000300: 3.528e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 4.52793e5

MQ
type: SiteQuality
SIO_000300: 5.848e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2212
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South Asian
type: Population
allele count: 1
allele frequency: 1.268713524486171e-4
allele num: 7882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 4.4791e5

FS
type: SiteQuality
SIO_000300: 1.454e0

QD
type: SiteQuality
SIO_000300: 1.581e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2198
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.100352112676056e-4
allele num: 9088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 4.46827e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

FS
type: SiteQuality
SIO_000300: 3.0481e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

VQSLOD
type: SiteQuality
SIO_000300: -5.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.109704641350211e-3
allele num: 474
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.9823e5

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.382978723404255e-3
allele num: 470
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.96805e5

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.549e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.798e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.396931927133269e-4
allele num: 8344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
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VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

DP
type: SiteQuality
SIO_000300: 3.13116e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
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South Asian
type: Population
allele count: 2
allele frequency: 2.656748140276302e-4
allele num: 7528
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.270000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.47988e5

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

QD
type: SiteQuality
SIO_000300: 3.477e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
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MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.476e1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

MQ
type: SiteQuality
SIO_000300: 5.532e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 3.59228e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2142
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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FS
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.064e1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 3.61793e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
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African
type: Population
allele count: 1
allele frequency: 4.668534080298786e-4
allele num: 2142
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

DP
type: SiteQuality
SIO_000300: 3.61793e5

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.94e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 622
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.140250855188141e-4
allele num: 8770
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.742e0

VQSLOD
type: SiteQuality
SIO_000300: -1.832e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.634e1

DP
type: SiteQuality
SIO_000300: 3.62274e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.15233924867481e-4
allele num: 8678
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African
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allele frequency: 0.0e0
allele num: 2080
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1630
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Latino
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allele frequency: 0.0e0
allele num: 378
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East Asian
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allele count: 0
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allele num: 604
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

FS
type: SiteQuality
SIO_000300: 2.276e0

DP
type: SiteQuality
SIO_000300: 3.58545e5

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2076
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European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 6.925207756232687e-4
allele num: 8664
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European (Finnish)
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allele count: 0
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allele num: 1630
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 1.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.312e1

DP
type: SiteQuality
SIO_000300: 3.58062e5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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African
type: Population
allele count: 5
allele frequency: 2.463054187192118e-3
allele num: 2030
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Latino
type: Population
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allele num: 362
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Other
type: Population
allele count: 0
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allele num: 238
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MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 3.55047e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 5.299e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.247193813918683e-4
allele num: 8018
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 556
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African
type: Population
allele count: 0
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allele num: 1894
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Latino
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allele num: 320
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South Asian
type: Population
allele count: 0
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Other
type: Population
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allele num: 224
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QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.579e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.802e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

FS
type: SiteQuality
SIO_000300: 6.322e0

DP
type: SiteQuality
SIO_000300: 3.26415e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.275184901810763e-4
allele num: 7842
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

FS
type: SiteQuality
SIO_000300: 1.384e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 3.03964e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.838e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.280737704918033e-4
allele num: 7808
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.02509e5

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
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SIO_000300: 1.604e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.337e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 1.94322e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.527e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

FS
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -3.762e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.559e0

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.945983e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.092e0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7047
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 9877
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.946981e6

FS
type: SiteQuality
SIO_000300: 9.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.047e-1

QD
type: SiteQuality
SIO_000300: 1.597e1

MQRankSum
type: SiteQuality
SIO_000300: -8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7512
bin: 9.75e1
variant carriers: 1627

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 83
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variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2826
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variant carriers: 3

GenotypeQuality
all individuals: 29566
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variant carriers: 1

Other
type: Population
allele count: 7
allele frequency: 7.72626931567329e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.85480093676815e-4
allele num: 66612
num of homozygotes: 0

Latino
type: Population
allele count: 93
allele frequency: 8.039419087136929e-3
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 1626
allele frequency: 1.566775872037001e-1
allele num: 10378
num of homozygotes: 125

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
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SIO_000300: 1.324e-1

BaseQRankSum
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SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 1.973659e6

QD
type: SiteQuality
SIO_000300: 1.537e1

VQSLOD
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SIO_000300: 5.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503422601176894e-5
allele num: 66616
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 2.999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.87e1

MQRankSum
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SIO_000300: 5.53e-1

QD
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503828254015913e-5
allele num: 66610
num of homozygotes: 0

Other
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African
type: Population
allele count: 0
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Latino
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allele frequency: 0.0e0
allele num: 11572
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
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SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.651e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.925837e6

VQSLOD
type: SiteQuality
SIO_000300: -9.080000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.905e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 1.17e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 2.91e-1

DP
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SIO_000300: 1.925882e6

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.41e0

QD
type: SiteQuality
SIO_000300: 1.562e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

FS
type: SiteQuality
SIO_000300: 4.166e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
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SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.925936e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 1.1161e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -7.54e-1

DP
type: SiteQuality
SIO_000300: 1.925889e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
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allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1161e1

BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.013e0

MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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MQ
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QD
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.925625e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.179e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3323
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501395432584101e-5
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 4.072e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 1.925571e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.311e-1

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.96e1

ReadPosRankSum
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SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.922467e6

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.71e0

FS
type: SiteQuality
SIO_000300: 1.3448e1

VQSLOD
type: SiteQuality
SIO_000300: -2.09e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

DP
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SIO_000300: 1.922097e6

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeDepth
all individuals: 16630
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 3258
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 2845
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GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.91995e6

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.086e1

VQSLOD
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SIO_000300: -2.01e-2

ReadPosRankSum
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SIO_000300: -2.205e0

ClippingRankSum
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SIO_000300: 2.3e0

MQ
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SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.723e0

BaseQRankSum
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SIO_000300: -1.847e0

MQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 9.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
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SIO_000300: -1.718e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2690
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GenotypeQuality
all individuals: 140
bin: 4.25e1
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GenotypeQuality
all individuals: 158
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 5098
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GenotypeQuality
all individuals: 1634
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variant carriers: 3

African
type: Population
allele count: 33
allele frequency: 3.484688489968321e-3
allele num: 9470
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.496503496503497e-3
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 8.039579468150897e-4
allele num: 64680
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.486737400530504e-3
allele num: 6032
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.337540906965872e-4
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0