X-49834554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834554
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834554
    reference: chr 0
allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.184G>A
  hgvsp: ENSP00000365259.3:p.Gly62Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.184G>A
  hgvsp: ENSP00000365256.3:p.Gly62Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.-27G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.-27G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
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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hgvs: p.Gly62Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

X-49834555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834555
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834555
    reference: chr 0
allele count: 1
allele frequency: 1.497409481596837e-5
allele num: 66782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.185G>A
  hgvsp: ENSP00000365256.3:p.Gly62Glu
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.-26G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.-26G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.185G>A
  hgvsp: ENSP00000365259.3:p.Gly62Glu
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly62Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

X-49834602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834602
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834602
    reference: chr 0
allele count: 8
allele frequency: 9.759668171282176e-5
allele num: 81970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.22A>G
  hgvsp: ENSP00000304257.2:p.Ile8Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.22A>G
  hgvsp: ENSP00000365276.3:p.Ile8Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.232A>G
  hgvsp: ENSP00000365256.3:p.Ile78Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.232A>G
  hgvsp: ENSP00000365259.3:p.Ile78Val
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
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genotype depth: GenotypeDepth
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hgvs: p.Ile78Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

X-49834663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834663
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834663
    reference: chr 0
allele count: 1
allele frequency: 1.238436102889271e-5
allele num: 80747
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.293G>A
  hgvsp: ENSP00000365259.3:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.83G>A
  hgvsp: ENSP00000365276.3:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.83G>A
  hgvsp: ENSP00000304257.2:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.293G>A
  hgvsp: ENSP00000365256.3:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Arg98Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
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site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

X-49834668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834668
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834668
    reference: chr 0
allele count: 5
allele frequency: 6.24289870272565e-5
allele num: 80091
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.298C>T
  hgvsp: ENSP00000365256.3:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.88C>T
  hgvsp: ENSP00000304257.2:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.88C>T
  hgvsp: ENSP00000365276.3:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.298C>T
  hgvsp: ENSP00000365259.3:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34170
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 95
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 38411
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg100Trp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-49834669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834669
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834669
    reference: chr 0
allele count: 2
allele frequency: 2.501626056937009e-5
allele num: 79948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.89G>A
  hgvsp: ENSP00000304257.2:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.89G>A
  hgvsp: ENSP00000365276.3:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.299G>A
  hgvsp: ENSP00000365256.3:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.299G>A
  hgvsp: ENSP00000365259.3:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
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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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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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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
hgvs: p.Arg100Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-49834676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834676
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834676
    reference: chr 0
allele count: 1
allele frequency: 1.272977239166964e-5
allele num: 78556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.96G>A
  hgvsp: ENST00000376108.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.96G>A
  hgvsp: ENST00000307367.2:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.306G>A
  hgvsp: ENST00000376088.3:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.306G>A
  hgvsp: ENST00000376091.3:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
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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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  variant carriers: 0
hgvs: p.Arg102Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

X-49834697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834697
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834697
    reference: chr 0
allele count: 40
allele frequency: 5.334329074760622e-4
allele num: 74986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.315+12G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.105+12G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.315+12G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.105+12G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 190
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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 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: 2395
  bin: 9.75e1
  variant carriers: 34
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-49834704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834704
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834704
    reference: chr 0
allele count: 7
allele frequency: 9.513325450863674e-5
allele num: 73581
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.105+19C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.315+19C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.315+19C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.105+19C>T
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.5e0
  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: 5594
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21638
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

X-49834705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834705
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834705
    reference: chr 0
allele count: 6
allele frequency: 8.1680438896225e-5
allele num: 73457
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.315+20A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.105+20A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.105+20A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.315+20A>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  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 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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1900
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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: 523
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22462
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-49834709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834709
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834709
    reference: chr 0
allele count: 4
allele frequency: 5.56428839706762e-5
allele num: 71887
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.105+24G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.315+24G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.105+24G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.315+24G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
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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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  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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  bin: 6.75e1
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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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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: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

X-49834727-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834727
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834727
    reference: chr 0
allele count: 5
allele frequency: 7.722604062089736e-5
allele num: 64745
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.105+42A>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.315+42A>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.105+42A>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.315+42A>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  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 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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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: 1208
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

X-49834734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049834734
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049834734
    reference: chr 0
allele count: 1
allele frequency: 1.67260441233044e-5
allele num: 59787
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.315+49G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.105+49G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.105+49G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.315+49G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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 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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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: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

X-49837102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837102
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837102
    reference: chr 0
allele count: 1
allele frequency: 1.16442902222895e-5
allele num: 85879
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.106-42G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.316-42G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.316-42G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.106-42G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
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 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: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

X-49837108-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837108
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837108
    reference: chr 0
allele count: 1
allele frequency: 1.161103047895501e-5
allele num: 86125
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.316-36T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.106-36T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.316-36T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.106-36T>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

X-49837127-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837127
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837127
    reference: chr 0
allele count: 546
allele frequency: 6.277449469980914e-3
allele num: 86978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.106-17T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.316-17T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.106-17T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.316-17T>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
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  variant carriers: 18
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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  variant carriers: 7
num of homozygotes: 2
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-49837129-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837129
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837129
    reference: chr 0
allele count: 1
allele frequency: 1.148817866415458e-5
allele num: 87046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.106-15C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.106-15C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.316-15C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.316-15C>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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 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: 4889
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-49837130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837130
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837130
    reference: chr 0
allele count: 1
allele frequency: 1.148118807334183e-5
allele num: 87099
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.316-14T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.106-14T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.106-14T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.316-14T>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
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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 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: 2158
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-49837151-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837151
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837151
    reference: chr 0
allele count: 1
allele frequency: 1.142713487447292e-5
allele num: 87511
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.323A>G
  hgvsp: ENSP00000365259.3:p.Asn108Ser
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.323A>G
  hgvsp: ENSP00000365256.3:p.Asn108Ser
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.113A>G
  hgvsp: ENSP00000365276.3:p.Asn38Ser
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.113A>G
  hgvsp: ENSP00000304257.2:p.Asn38Ser
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  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 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
  all individuals: 42
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hgvs: p.Asn108Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

X-49837159-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837159
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837159
    reference: chr 0
allele count: 1
allele frequency: 1.14200879346771e-5
allele num: 87565
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.121A>C
  hgvsp: ENSP00000365276.3:p.Lys41Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.331A>C
  hgvsp: ENSP00000365259.3:p.Lys111Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.331A>C
  hgvsp: ENSP00000365256.3:p.Lys111Gln
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.121A>C
  hgvsp: ENSP00000304257.2:p.Lys41Gln
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
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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 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.Lys111Gln
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-49837170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837170
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837170
    reference: chr 0
allele count: 2
allele frequency: 2.282740201337686e-5
allele num: 87614
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.342A>G
  hgvsp: ENST00000376088.3:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.132A>G
  hgvsp: ENST00000376108.3:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.342A>G
  hgvsp: ENST00000376091.3:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.132A>G
  hgvsp: ENST00000307367.2:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 6.75e1
  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
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr114Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

X-49837189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837189
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837189
    reference: chr 0
allele count: 2
allele frequency: 2.281958833462644e-5
allele num: 87644
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.361G>A
  hgvsp: ENSP00000365256.3:p.Val121Met
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.151G>A
  hgvsp: ENSP00000304257.2:p.Val51Met
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.151G>A
  hgvsp: ENSP00000365276.3:p.Val51Met
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.361G>A
  hgvsp: ENSP00000365259.3:p.Val121Met
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
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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
  all individuals: 312
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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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 520
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genotype depth: GenotypeDepth
  all individuals: 625
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
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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
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28000
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val121Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-49837206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837206
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837206
    reference: chr 0
allele count: 8
allele frequency: 9.129918743723181e-5
allele num: 87624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.168C>T
  hgvsp: ENST00000376108.3:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.378C>T
  hgvsp: ENST00000376091.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.168C>T
  hgvsp: ENST00000307367.2:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.378C>T
  hgvsp: ENST00000376088.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  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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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  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: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3375
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  variant carriers: 3
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
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genotype quality: GenotypeQuality
  all individuals: 2621
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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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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser126Ser
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

X-49837207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837207
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837207
    reference: chr 0
allele count: 2
allele frequency: 2.282635988038987e-5
allele num: 87618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.169G>A
  hgvsp: ENSP00000365276.3:p.Gly57Ser
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.169G>A
  hgvsp: ENSP00000304257.2:p.Gly57Ser
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.379G>A
  hgvsp: ENSP00000365259.3:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.379G>A
  hgvsp: ENSP00000365256.3:p.Gly127Ser
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20350
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genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12100
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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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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
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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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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: 5030
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2154
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
hgvs: p.Gly127Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

X-49837229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837229
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837229
    reference: chr 0
allele count: 2
allele frequency: 2.284121926428433e-5
allele num: 87561
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.401T>C
  hgvsp: ENSP00000365259.3:p.Ile134Thr
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.401T>C
  hgvsp: ENSP00000365256.3:p.Ile134Thr
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.191T>C
  hgvsp: ENSP00000365276.3:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.191T>C
  hgvsp: ENSP00000304257.2:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile134Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

X-49837233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837233
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837233
    reference: chr 0
allele count: 1
allele frequency: 1.142517651897722e-5
allele num: 87526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.405G>A
  hgvsp: ENST00000376091.3:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.195G>A
  hgvsp: ENST00000376108.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.195G>A
  hgvsp: ENST00000307367.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.405G>A
  hgvsp: ENST00000376088.3:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
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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
  all individuals: 478
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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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
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
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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
  all individuals: 2037
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27608
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly135Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-49837249-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837249
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837249
    reference: chr 0
allele count: 2
allele frequency: 2.291134455225505e-5
allele num: 87293
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.415+6G>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.415+6G>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.205+6G>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.205+6G>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
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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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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 199
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2154
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4935
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2016
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.25e1
  variant carriers: 0
hgvs: c.415+6G>C
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-49837255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837255
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837255
    reference: chr 0
allele count: 1
allele frequency: 1.147394267618239e-5
allele num: 87154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.205+12T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.415+12T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.415+12T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.205+12T>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2153
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genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

X-49837269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837269
    reference: chr 0
allele count: 1
allele frequency: 1.151436993367723e-5
allele num: 86848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.205+26A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.415+26A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.415+26A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.205+26A>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
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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
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

X-49837276-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837276
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837276
    reference: chr 0
allele count: 1
allele frequency: 1.155989179941276e-5
allele num: 86506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.205+33T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.415+33T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.205+33T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.415+33T>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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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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num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-49837277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837277
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837277
    reference: chr 0
allele count: 1
allele frequency: 1.154814421322493e-5
allele num: 86594
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.415+34C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.205+34C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.205+34C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.415+34C>T
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
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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num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
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site quality: MQRankSum
site quality: BaseQRankSum

X-49837286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049837286
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049837286
    reference: chr 0
allele count: 2
allele frequency: 2.319217032329885e-5
allele num: 86236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.205+43G>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.415+43G>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.415+43G>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.205+43G>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6069
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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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: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-49840403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840403
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840403
    reference: chr 0
allele count: 3
allele frequency: 3.436071882623784e-5
allele num: 87309
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.416-47C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.206-47C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.416-47C>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.206-47C>T
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22419
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  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: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

X-49840404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840404
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840404
    reference: chr 0
allele count: 2
allele frequency: 2.289901534234028e-5
allele num: 87340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.206-46G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.416-46G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.206-46G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.416-46G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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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: 467
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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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  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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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
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: 290
  bin: 8.25e1
  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
  all individuals: 478
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genotype quality: GenotypeQuality
  all individuals: 904
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genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8899
  bin: 9.75e1
  variant carriers: 2
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
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

X-49840437-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840437
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840437
    reference: chr 0
allele count: 1
allele frequency: 1.140901312036509e-5
allele num: 87650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.206-13C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.416-13C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.206-13C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.416-13C>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  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: 2038
  bin: 9.75e1
  variant carriers: 1
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: 1213
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 3.25e1
  variant carriers: 1
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: 8893
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

X-49840444-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840444
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840444
    reference: chr 0
allele count: 496
allele frequency: 5.657321440792025e-3
allele num: 87674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.206-6A>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.206-6A>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.416-6A>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.416-6A>T
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 9.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1191
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  variant carriers: 25
genotype depth: GenotypeDepth
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  variant carriers: 11
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
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  variant carriers: 18
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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: 25
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 362
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  variant carriers: 20
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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  variant carriers: 473
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: 38705
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genotype quality: GenotypeQuality
  all individuals: 100
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genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 2
hgvs: c.416-6A>T
num of homozygotes: 10
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

X-49840454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840454
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840454
    reference: chr 0
allele count: 7
allele frequency: 7.980936961999339e-5
allele num: 87709
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.210G>A
  hgvsp: ENST00000307367.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.420G>A
  hgvsp: ENST00000376091.3:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.420G>A
  hgvsp: ENST00000376088.3:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.210G>A
  hgvsp: ENST00000376108.3:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser140Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

X-49840483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840483
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840483
    reference: chr 0
allele count: 1
allele frequency: 1.139834951898965e-5
allele num: 87732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.239A>G
  hgvsp: ENSP00000365276.3:p.His80Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.449A>G
  hgvsp: ENSP00000365256.3:p.His150Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.449A>G
  hgvsp: ENSP00000365259.3:p.His150Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.239A>G
  hgvsp: ENSP00000304257.2:p.His80Arg
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16230
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genotype depth: GenotypeDepth
  all individuals: 1182
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8665
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7611
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genotype quality: GenotypeQuality
  all individuals: 878
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His150Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS

X-49840484-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840484
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840484
    reference: chr 0
allele count: 7
allele frequency: 7.978935609989628e-5
allele num: 87731
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.450T>C
  hgvsp: ENST00000376091.3:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.240T>C
  hgvsp: ENST00000376108.3:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.450T>C
  hgvsp: ENST00000376088.3:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.240T>C
  hgvsp: ENST00000307367.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8666
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  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7612
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His150His
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-49840498-TAAAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840498
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840493
    reference: chr 0
allele count: 1
allele frequency: 1.139847944284233e-5
allele num: 87731
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.257_261delAAGAA
  hgvsp: ENSP00000365276.3:p.Lys86ArgfsTer10
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.467_471delAAGAA
  hgvsp: ENSP00000365256.3:p.Lys156ArgfsTer10
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.257_261delAAGAA
  hgvsp: ENSP00000304257.2:p.Lys86ArgfsTer10
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.467_471delAAGAA
  hgvsp: ENSP00000365259.3:p.Lys156ArgfsTer10
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 347
  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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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7615
  bin: 6.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 342
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys156ArgfsTer10
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TAAAAG
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

X-49840520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840520
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840520
    reference: chr 0
allele count: 1
allele frequency: 1.140211851361983e-5
allele num: 87703
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.276G>C
  hgvsp: ENST00000307367.2:c.276G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.486G>C
  hgvsp: ENST00000376091.3:c.486G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.486G>C
  hgvsp: ENST00000376088.3:c.486G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.276G>C
  hgvsp: ENST00000376108.3:c.276G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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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 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: 869
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly162Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

X-49840537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840537
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840537
    reference: chr 0
allele count: 1
allele frequency: 1.140706097074089e-5
allele num: 87665
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.293A>G
  hgvsp: ENSP00000304257.2:p.His98Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.503A>G
  hgvsp: ENSP00000365256.3:p.His168Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.293A>G
  hgvsp: ENSP00000365276.3:p.His98Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.503A>G
  hgvsp: ENSP00000365259.3:p.His168Arg
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  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
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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: 30
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  variant carriers: 0
hgvs: p.His168Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-49840540-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840540
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840540
    reference: chr 0
allele count: 2
allele frequency: 2.281802624073018e-5
allele num: 87650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.506A>T
  hgvsp: ENSP00000365256.3:p.Glu169Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.506A>T
  hgvsp: ENSP00000365259.3:p.Glu169Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.296A>T
  hgvsp: ENSP00000304257.2:p.Glu99Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.296A>T
  hgvsp: ENSP00000365276.3:p.Glu99Val
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
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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
  all individuals: 1045
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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
  all individuals: 2
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hgvs: p.Glu169Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-49840548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840548
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840548
    reference: chr 0
allele count: 1
allele frequency: 1.141565542985651e-5
allele num: 87599
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.304T>C
  hgvsp: ENSP00000304257.2:p.Cys102Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.304T>C
  hgvsp: ENSP00000365276.3:p.Cys102Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.514T>C
  hgvsp: ENSP00000365259.3:p.Cys172Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.514T>C
  hgvsp: ENSP00000365256.3:p.Cys172Arg
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  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 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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hgvs: p.Cys172Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

X-49840560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840560
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840560
    reference: chr 0
allele count: 2
allele frequency: 2.286158453642422e-5
allele num: 87483
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.526G>A
  hgvsp: ENSP00000365256.3:p.Glu176Lys
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.316G>A
  hgvsp: ENSP00000365276.3:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.526G>A
  hgvsp: ENSP00000365259.3:p.Glu176Lys
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.316G>A
  hgvsp: ENSP00000304257.2:p.Glu106Lys
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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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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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  bin: 9.75e1
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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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  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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu176Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

X-49840564-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840564
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840564
    reference: chr 0
allele count: 2
allele frequency: 2.287544321171223e-5
allele num: 87430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.320A>C
  hgvsp: ENSP00000365276.3:p.His107Pro
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.530A>C
  hgvsp: ENSP00000365256.3:p.His177Pro
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.530A>C
  hgvsp: ENSP00000365259.3:p.His177Pro
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.320A>C
  hgvsp: ENSP00000304257.2:p.His107Pro
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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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
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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: 5
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genotype quality: GenotypeQuality
  all individuals: 38189
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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
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
hgvs: p.His177Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

X-49840581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840581
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840581
    reference: chr 0
allele count: 2
allele frequency: 2.297213480048701e-5
allele num: 87062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.337A>G
  hgvsp: ENSP00000304257.2:p.Arg113Gly
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.547A>G
  hgvsp: ENSP00000365259.3:p.Arg183Gly
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.337A>G
  hgvsp: ENSP00000365276.3:p.Arg113Gly
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.547A>G
  hgvsp: ENSP00000365256.3:p.Arg183Gly
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1173
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genotype depth: GenotypeDepth
  all individuals: 813
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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
  all individuals: 2017
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 284
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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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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: 7238
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  variant carriers: 0
hgvs: p.Arg183Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

X-49840582-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840582
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840582
    reference: chr 0
allele count: 1
allele frequency: 1.148936659121983e-5
allele num: 87037
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.548G>C
  hgvsp: ENSP00000365256.3:p.Arg183Thr
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.548G>C
  hgvsp: ENSP00000365259.3:p.Arg183Thr
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.338G>C
  hgvsp: ENSP00000304257.2:p.Arg113Thr
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.338G>C
  hgvsp: ENSP00000365276.3:p.Arg113Thr
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15023
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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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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  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 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: 812
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg183Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

X-49840588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840588
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840588
    reference: chr 0
allele count: 32
allele frequency: 3.682986902377829e-4
allele num: 86886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.344A>G
  hgvsp: ENSP00000304257.2:p.Lys115Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.554A>G
  hgvsp: ENSP00000365256.3:p.Lys185Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.344A>G
  hgvsp: ENSP00000365276.3:p.Lys115Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.554A>G
  hgvsp: ENSP00000365259.3:p.Lys185Arg
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23388
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genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
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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: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8652
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys185Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-49840618-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840618
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840618
    reference: chr 0
allele count: 1
allele frequency: 1.17023392976256e-5
allele num: 85453
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.584T>G
  hgvsp: ENSP00000365259.3:p.Leu195Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.374T>G
  hgvsp: ENSP00000304257.2:p.Leu125Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.374T>G
  hgvsp: ENSP00000365276.3:p.Leu125Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.584T>G
  hgvsp: ENSP00000365256.3:p.Leu195Arg
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
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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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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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  bin: 6.25e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 34710
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 210
  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
  all individuals: 435
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genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu195Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

X-49840630-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840630
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840630
    reference: chr 0
allele count: 1
allele frequency: 1.187507421921387e-5
allele num: 84210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.386C>G
  hgvsp: ENSP00000365276.3:p.Thr129Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.386C>G
  hgvsp: ENSP00000304257.2:p.Thr129Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.596C>G
  hgvsp: ENSP00000365256.3:p.Thr199Arg
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.596C>G
  hgvsp: ENSP00000365259.3:p.Thr199Arg
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20770
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 449
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  variant carriers: 0
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
  all individuals: 803
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 496
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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: 6214
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr199Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

X-49840642-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840642
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840640
    reference: chr 0
allele count: 3
allele frequency: 3.631917289136935e-5
allele num: 82601
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.603+6_603+7delAT
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.603+6_603+7delAT
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.393+6_393+7delAT
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.393+6_393+7delAT
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
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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: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  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: 9721
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 348
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1130
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
hgvs: c.603+6_603+7delAT
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAT
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

X-49840663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840663
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840663
    reference: chr 0
allele count: 1
allele frequency: 1.264782141276165e-5
allele num: 79065
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.393+26C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.603+26C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.603+26C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.393+26C>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 1034
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
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genotype depth: GenotypeDepth
  all individuals: 12154
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7005
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genotype depth: GenotypeDepth
  all individuals: 6138
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2027
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  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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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

X-49840665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840665
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840665
    reference: chr 0
allele count: 1
allele frequency: 1.271633667772988e-5
allele num: 78639
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.603+28A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.393+28A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.603+28A>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.393+28A>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  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 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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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: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-49840666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840666
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840666
    reference: chr 0
allele count: 1
allele frequency: 1.284191601386927e-5
allele num: 77870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.393+29T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.393+29T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.603+29T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.603+29T>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  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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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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  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

X-49840668-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840668
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840668
    reference: chr 0
allele count: 1
allele frequency: 1.285297482102232e-5
allele num: 77803
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.603+31G>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.393+31G>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.393+31G>T
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.603+31G>T
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

X-49840685-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049840685
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049840685
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 70521
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.393+48T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.393+48T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.603+48T>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.603+48T>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 9.75e1
  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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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

X-49845206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845206
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845206
    reference: chr 0
allele count: 1
allele frequency: 1.594209829897811e-5
allele num: 62727
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.394-45G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.394-45G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.604-45G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.604-45G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  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: 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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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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6394
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

X-49845217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845217
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845217
    reference: chr 0
allele count: 1
allele frequency: 1.57418339236521e-5
allele num: 63525
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.394-34G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.604-34G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.394-34G>A
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.604-34G>A
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  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: 284
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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: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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: 539
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 1
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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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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: 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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  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
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

X-49845232-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845232
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845232
    reference: chr 0
allele count: 3
allele frequency: 4.566071048065508e-5
allele num: 65702
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.604-19C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.604-19C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.394-19C>G
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.394-19C>G
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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: 7.5e0
  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
  all individuals: 4363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  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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  variant carriers: 0
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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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: 3467
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genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-49845243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845243
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845243
    reference: chr 0
allele count: 1
allele frequency: 1.442793247727601e-5
allele num: 69310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.604-8T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.394-8T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.604-8T>C
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.394-8T>C
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  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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  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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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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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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
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 18367
  bin: 6.25e1
  variant carriers: 0
hgvs: c.604-8T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

X-49845262-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845262
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845262
    reference: chr 0
allele count: 8
allele frequency: 1.047271203969158e-4
allele num: 76389
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.405C>T
  hgvsp: ENST00000307367.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.615C>T
  hgvsp: ENST00000376091.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.405C>T
  hgvsp: ENST00000376108.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.615C>T
  hgvsp: ENST00000376088.3:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  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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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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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: 10362
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  variant carriers: 0
hgvs: p.Ala205Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-49845265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845265
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845265
    reference: chr 0
allele count: 1
allele frequency: 1.290688969772064e-5
allele num: 77478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.618C>T
  hgvsp: ENST00000376091.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.618C>T
  hgvsp: ENST00000376088.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.408C>T
  hgvsp: ENST00000307367.2:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.408C>T
  hgvsp: ENST00000376108.3:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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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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  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 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: 317
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  variant carriers: 0
hgvs: p.Tyr206Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-49845266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845266
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845266
    reference: chr 0
allele count: 1
allele frequency: 1.284323546787907e-5
allele num: 77862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.409A>G
  hgvsp: ENSP00000304257.2:p.Ile137Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.619A>G
  hgvsp: ENSP00000365259.3:p.Ile207Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.409A>G
  hgvsp: ENSP00000365276.3:p.Ile137Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.619A>G
  hgvsp: ENSP00000365256.3:p.Ile207Val
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
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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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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 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: 4695
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  variant carriers: 0
hgvs: p.Ile207Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

X-49845281-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845281
    reference: chr 0
allele count: 1
allele frequency: 1.214358575800262e-5
allele num: 82348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.634A>G
  hgvsp: ENSP00000365259.3:p.Met212Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.424A>G
  hgvsp: ENSP00000304257.2:p.Met142Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.634A>G
  hgvsp: ENSP00000365256.3:p.Met212Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.424A>G
  hgvsp: ENSP00000365276.3:p.Met142Val
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.25e1
  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 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: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met212Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

X-49845281-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845281
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845281
    reference: chr 0
allele count: 1
allele frequency: 1.214358575800262e-5
allele num: 82348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.634A>T
  hgvsp: ENSP00000365259.3:p.Met212Leu
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.634A>T
  hgvsp: ENSP00000365256.3:p.Met212Leu
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.424A>T
  hgvsp: ENSP00000304257.2:p.Met142Leu
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.424A>T
  hgvsp: ENSP00000365276.3:p.Met142Leu
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
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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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  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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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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
  all individuals: 1948
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met212Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-49845283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845283
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845283
    reference: chr 0
allele count: 246
allele frequency: 2.967573827446439e-3
allele num: 82896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.426G>A
  hgvsp: ENSP00000365276.3:p.Met142Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.636G>A
  hgvsp: ENSP00000365259.3:p.Met212Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.636G>A
  hgvsp: ENSP00000365256.3:p.Met212Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.426G>A
  hgvsp: ENSP00000304257.2:p.Met142Ile
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 31729
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  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 202
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  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
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: 9.75e1
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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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  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 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: 501
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genotype quality: GenotypeQuality
  all individuals: 417
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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: 215
genotype quality: GenotypeQuality
  all individuals: 698
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  variant carriers: 1
hgvs: p.Met212Ile
num of homozygotes: 1
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

X-49845286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845286
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845286
    reference: chr 0
allele count: 2
allele frequency: 2.388573066450103e-5
allele num: 83732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.639C>T
  hgvsp: ENST00000376091.3:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.429C>T
  hgvsp: ENST00000376108.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.639C>T
  hgvsp: ENST00000376088.3:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.429C>T
  hgvsp: ENST00000307367.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
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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: 1410
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Tyr213Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-49845287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845287
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845287
    reference: chr 0
allele count: 5
allele frequency: 5.927682276229994e-5
allele num: 84350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.430G>A
  hgvsp: ENSP00000304257.2:p.Val144Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.430G>A
  hgvsp: ENSP00000365276.3:p.Val144Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.640G>A
  hgvsp: ENSP00000365259.3:p.Val214Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.640G>A
  hgvsp: ENSP00000365256.3:p.Val214Ile
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val214Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

X-49845303-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845303
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845303
    reference: chr 0
allele count: 1
allele frequency: 1.152578317696687e-5
allele num: 86762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.656T>C
  hgvsp: ENSP00000365256.3:p.Leu219Pro
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.446T>C
  hgvsp: ENSP00000304257.2:p.Leu149Pro
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.446T>C
  hgvsp: ENSP00000365276.3:p.Leu149Pro
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.656T>C
  hgvsp: ENSP00000365259.3:p.Leu219Pro
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
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genotype depth: GenotypeDepth
  all individuals: 559
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genotype depth: GenotypeDepth
  all individuals: 341
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1969
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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 depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  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
  all individuals: 381
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 0
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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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2532
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genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu219Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-49845319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845319
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845319
    reference: chr 0
allele count: 3
allele frequency: 3.430453277226364e-5
allele num: 87452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.672C>T
  hgvsp: ENST00000376088.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.462C>T
  hgvsp: ENST00000376108.3:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.462C>T
  hgvsp: ENST00000307367.2:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.672C>T
  hgvsp: ENST00000376091.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  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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  bin: 2.5e0
  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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genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
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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
  all individuals: 5945
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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: 2545
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genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
hgvs: p.Ala224Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-49845320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845320
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845320
    reference: chr 0
allele count: 3
allele frequency: 3.42974734194581e-5
allele num: 87470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.463G>A
  hgvsp: ENSP00000304257.2:p.Val155Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.673G>A
  hgvsp: ENSP00000365259.3:p.Val225Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.673G>A
  hgvsp: ENSP00000365256.3:p.Val225Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.463G>A
  hgvsp: ENSP00000365276.3:p.Val155Ile
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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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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  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 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: 31
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  variant carriers: 0
hgvs: p.Val225Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

X-49845324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845324
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845324
    reference: chr 0
allele count: 1
allele frequency: 1.142413233714899e-5
allele num: 87534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.467C>T
  hgvsp: ENSP00000365276.3:p.Ser156Phe
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.677C>T
  hgvsp: ENSP00000365259.3:p.Ser226Phe
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.467C>T
  hgvsp: ENSP00000304257.2:p.Ser156Phe
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.677C>T
  hgvsp: ENSP00000365256.3:p.Ser226Phe
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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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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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: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39583
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser226Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

X-49845329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845329
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845329
    reference: chr 0
allele count: 1
allele frequency: 1.141617672241566e-5
allele num: 87595
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.472G>A
  hgvsp: ENSP00000304257.2:p.Val158Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.682G>A
  hgvsp: ENSP00000365259.3:p.Val228Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.682G>A
  hgvsp: ENSP00000365256.3:p.Val228Ile
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.472G>A
  hgvsp: ENSP00000365276.3:p.Val158Ile
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39640
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val228Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-49845342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845342
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845342
    reference: chr 0
allele count: 2
allele frequency: 2.281204019481482e-5
allele num: 87673
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.695C>T
  hgvsp: ENSP00000365256.3:p.Ala232Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365276
  ensembl transcript: ENST00000376108
  gene symbol: CLCN5
  hgvsc: ENST00000376108.3:c.485C>T
  hgvsp: ENSP00000365276.3:p.Ala162Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000304257
  ensembl transcript: ENST00000307367
  gene symbol: CLCN5
  hgvsc: ENST00000307367.2:c.485C>T
  hgvsp: ENSP00000304257.2:p.Ala162Val
  variant of: http://identifiers.org/hgnc/2023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365259
  ensembl transcript: ENST00000376091
  gene symbol: CLCN5
  hgvsc: ENST00000376091.3:c.695C>T
  hgvsp: ENSP00000365259.3:p.Ala232Val
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6622
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala232Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

X-49845343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24049845343
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24049845343
    reference: chr 0
allele count: 1
allele frequency: 1.140497941401216e-5
allele num: 87681
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171365
  ensembl protein: ENSP00000365256
  ensembl transcript: ENST00000376088
  gene symbol: CLCN5
  hgvsc: ENST00000376088.3:c.696G>A
  hgvsp: ENST00000376088.3:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2023
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Ala232Ala
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29098
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.43348623853211e-4
allele num: 6976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7181
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3341
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

DP
type: SiteQuality
SIO_000300: 1.141856e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

FS
type: SiteQuality
SIO_000300: 1.485e0

QD
type: SiteQuality
SIO_000300: 3.91e0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.767017155506364e-5
allele num: 36140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3379
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7167
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

DP
type: SiteQuality
SIO_000300: 1.15149e6

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45089
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 9.243212016175621e-4
allele num: 8655
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5513e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.38809e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.964e1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9583
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44287
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8686
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.238543472875898e-4
allele num: 8074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.344558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.597699312989295e-4
allele num: 6259
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.244864932154861e-4
allele num: 8033
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.278163799977218e-5
allele num: 43895
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.832085044696786e-4
allele num: 4139
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8633
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.327614e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

FS
type: SiteQuality
SIO_000300: 4.364e0

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 2749
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8543
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.161035643794264e-4
allele num: 8613
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6249
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.245795440388688e-4
allele num: 8027
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

DP
type: SiteQuality
SIO_000300: 1.32438e6

FS
type: SiteQuality
SIO_000300: 1.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4059
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8421
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6127
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.325148809523809e-5
allele num: 43008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.279804e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.405e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 7.58e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.44552591034702e-5
allele num: 40891
num of homozygotes: 0

Latino
type: Population
allele count: 39
allele frequency: 4.82017055988135e-3
allele num: 8091
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5813
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 539
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.507e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

DP
type: SiteQuality
SIO_000300: 1.161165e6

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22956
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7941
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.747378931602596e-4
allele num: 40060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5705
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 529
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.11579e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 3.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.829e1

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5701
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7929
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.251126013412071e-4
allele num: 39964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7917
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.890359168241966e-3
allele num: 529
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7583
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.107235e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 1.290655653071761e-4
allele num: 7748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39038
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.854059609455293e-4
allele num: 7784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3767
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7463
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5569
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 2.55e1

DP
type: SiteQuality
SIO_000300: 1.067419e6

MQRankSum
type: SiteQuality
SIO_000300: -1.333e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.864e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

GenotypeQuality
all individuals: 16321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4909
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 469
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3407
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.436657759388559e-4
allele num: 34803
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6975
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.765e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.43344e5

FS
type: SiteQuality
SIO_000300: 4.671e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.994e0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.532801961986511e-4
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 451
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31965
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3147
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6421
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6837
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.578e1

DP
type: SiteQuality
SIO_000300: 9.27805e5

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.129471890971039e-5
allele num: 46960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8399
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9113
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4459
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.907e0

DP
type: SiteQuality
SIO_000300: 2.313927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

FS
type: SiteQuality
SIO_000300: 7.659e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

QD
type: SiteQuality
SIO_000300: 2.629e1

GenotypeQuality
all individuals: 792
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8417
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9137
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Other
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: 4466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.12300702715326e-5
allele num: 47103
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.338916e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.479e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

GenotypeQuality
all individuals: 2588
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 325
allele frequency: 6.824576876233674e-3
allele num: 47622
num of homozygotes: 1

East Asian
type: Population
allele count: 3
allele frequency: 4.549590536851683e-4
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.180080245456691e-3
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 174
allele frequency: 1.742788461538462e-2
allele num: 9984
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 4.769475357710651e-3
allele num: 629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 3.574620196604111e-3
allele num: 4476
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.630612023045983e-3
allele num: 9199
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.661e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 4.042e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 2.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 2.415813e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
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variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9199
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9989
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.641e1

DP
type: SiteQuality
SIO_000300: 2.405214e6

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

GenotypeQuality
all individuals: 1324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9203
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4485
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9999
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47696
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.183e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

DP
type: SiteQuality
SIO_000300: 2.40672e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9245
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4501
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10093
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08776984425237e-5
allele num: 47898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

DP
type: SiteQuality
SIO_000300: 2.422217e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.157e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

FS
type: SiteQuality
SIO_000300: 8.510999999999999e0

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8509
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086680716983494e-5
allele num: 47923
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10103
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.41e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.424048e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27947
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variant carriers: 0

GenotypeQuality
all individuals: 16498
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10109
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.171533455698315e-5
allele num: 47944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.562e0

FS
type: SiteQuality
SIO_000300: 1.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: -6.138e-1

DP
type: SiteQuality
SIO_000300: 2.425499e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

GenotypeQuality
all individuals: 2837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.170750526557254e-5
allele num: 47953
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.002e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.181e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

MQRankSum
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 2.426401e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

GenotypeQuality
all individuals: 2835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1319
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variant carriers: 0

GenotypeQuality
all individuals: 16503
bin: 9.75e1
variant carriers: 8

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9275
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.668891855807744e-4
allele num: 47936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.522e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.518e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 2.426637e6

GenotypeQuality
all individuals: 2046
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9273
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.172577818576317e-5
allele num: 47932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.775e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.176e-1

DP
type: SiteQuality
SIO_000300: 2.426201e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16499
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9269
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10099
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.175365344467641e-5
allele num: 47900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.424214e6

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 1.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.813e1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16499
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8505
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.088336639866346e-5
allele num: 47885
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10093
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.42269e6

MQRankSum
type: SiteQuality
SIO_000300: 2.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.736e0

FS
type: SiteQuality
SIO_000300: 2.831e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.479e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9233
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.187078675208307e-5
allele num: 47766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4501
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8487
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.275e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 2.892e1

DP
type: SiteQuality
SIO_000300: 2.413405e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

Other
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: 8477
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6613
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.957184108334163e-5
allele num: 10043
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47679
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.403319e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 3.1e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.46e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.087547580206634e-4
allele num: 9195
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8465
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9993
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.363181e6

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.991e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16489
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8443
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.113494663425975e-5
allele num: 47315
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

MQ
type: SiteQuality
SIO_000300: 3.401e1

VQSLOD
type: SiteQuality
SIO_000300: -8.956e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.9415e1

QD
type: SiteQuality
SIO_000300: 6.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.312e0

DP
type: SiteQuality
SIO_000300: 2.331399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.084e0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8445
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9955
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6559
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.111129876710015e-5
allele num: 47368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQ
type: SiteQuality
SIO_000300: 3.46e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 2.7445e1

QD
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 2.326613e6

VQSLOD
type: SiteQuality
SIO_000300: -3.065e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

GenotypeQuality
all individuals: 1832
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4459
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 3.063725490196078e-4
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8425
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9137
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9909
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

DP
type: SiteQuality
SIO_000300: 2.292079e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.46e0

QD
type: SiteQuality
SIO_000300: 2.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8909
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 1
allele frequency: 1.511258878645912e-4
allele num: 6617
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4511
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.186377527525432e-5
allele num: 47774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10045
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 2.245e1

DP
type: SiteQuality
SIO_000300: 2.009689e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.62e-2

FS
type: SiteQuality
SIO_000300: 2.357e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

GenotypeQuality
all individuals: 1706
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.954210631096954e-5
allele num: 10046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47799
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.180498170227836e-4
allele num: 8471
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6607
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.242e0

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

QD
type: SiteQuality
SIO_000300: 1.859e1

DP
type: SiteQuality
SIO_000300: 2.012524e6

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8501
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073883161512027e-4
allele num: 9312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.521e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.045949e6

FS
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.76e-2

QD
type: SiteQuality
SIO_000300: 1.825e1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 869
bin: 8.25e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.085114368523114e-4
allele num: 47959
num of homozygotes: 0

African
type: Population
allele count: 472
allele frequency: 5.552287966121633e-2
allele num: 8501
num of homozygotes: 10

Other
type: Population
allele count: 3
allele frequency: 4.746835443037975e-3
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.98000198000198e-4
allele num: 10101
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 9.660798626019751e-4
allele num: 9316
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.412e0

DP
type: SiteQuality
SIO_000300: 2.070251e6

FS
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 1.641e1

VQSLOD
type: SiteQuality
SIO_000300: 2.329e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.137e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 8671
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.35072872590503e-4
allele num: 8508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.042296387400721e-4
allele num: 47971
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.371e-1

FS
type: SiteQuality
SIO_000300: 2.741e0

VQSLOD
type: SiteQuality
SIO_000300: 6.76e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.04177e6

QD
type: SiteQuality
SIO_000300: 1.748e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.888262632255513e-5
allele num: 10113
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47985
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.512e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.02e1

DP
type: SiteQuality
SIO_000300: 2.042475e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.041992289257059e-4
allele num: 47985
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.349072116513977e-4
allele num: 8514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.897e1

FS
type: SiteQuality
SIO_000300: 1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 2.043047e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.919e-1

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8662
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.261e1

DP
type: SiteQuality
SIO_000300: 2.042439e6

MQRankSum
type: SiteQuality
SIO_000300: -4.671e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 7.17e0

FS
type: SiteQuality
SIO_000300: 3.927e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.174674027957242e-4
allele num: 8513
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10107
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.252e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

DP
type: SiteQuality
SIO_000300: 2.04204e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.12e-1

FS
type: SiteQuality
SIO_000300: 8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.074575542660649e-4
allele num: 9306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.355e0

DP
type: SiteQuality
SIO_000300: 2.040576e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 4.117e0

VQSLOD
type: SiteQuality
SIO_000300: -3.993e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

QD
type: SiteQuality
SIO_000300: 1.476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47948
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.14938205265986e-4
allele num: 9305
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10093
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

East Asian
type: Population
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: 630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.943e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.96e-2

DP
type: SiteQuality
SIO_000300: 2.040169e6

QD
type: SiteQuality
SIO_000300: 1.623e1

FS
type: SiteQuality
SIO_000300: 7.993e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47925
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.796e0

FS
type: SiteQuality
SIO_000300: 1.207e0

DP
type: SiteQuality
SIO_000300: 2.038226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4525
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.177458434288579e-5
allele num: 47876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

MQRankSum
type: SiteQuality
SIO_000300: -1.995e0

QD
type: SiteQuality
SIO_000300: 2.19e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.283e0

VQSLOD
type: SiteQuality
SIO_000300: -1.708e0

FS
type: SiteQuality
SIO_000300: 6.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 2.034214e6

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

Latino
type: Population
allele count: 1
allele frequency: 1.076773985140519e-4
allele num: 9287
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47842
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.981036031540073e-5
allele num: 10019
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.757e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.48e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

FS
type: SiteQuality
SIO_000300: 1.2338e1

DP
type: SiteQuality
SIO_000300: 2.031572e6

GenotypeQuality
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47615
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.011667672500503e-4
allele num: 9942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8469
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.21e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 9.031000000000001e0

DP
type: SiteQuality
SIO_000300: 2.017049e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 2.24e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9265
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8469
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47599
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.006542526421741e-4
allele num: 9935
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.299e1

VQSLOD
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 2.016086e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

MQ
type: SiteQuality
SIO_000300: 5.904e1

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: 1

African
type: Population
allele count: 1
allele frequency: 1.181614084839891e-4
allele num: 8463
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 6.315124723713293e-4
allele num: 47505
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.080030240846744e-4
allele num: 9259
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.011619e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.759e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.137e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.145600446284893e-5
allele num: 46607
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.960335e6

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.263999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45813
num of homozygotes: 0

African
type: Population
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allele frequency: 1.203079884504331e-4
allele num: 8312
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 599
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4413
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.497e1

QD
type: SiteQuality
SIO_000300: 3.222e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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African
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allele frequency: 0.0e0
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Latino
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Other
type: Population
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4344
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European (Non-Finnish)
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allele count: 3
allele frequency: 6.696877023014934e-5
allele num: 44797
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.844439e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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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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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 8677
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42595
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Other
type: Population
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allele frequency: 0.0e0
allele num: 554
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African
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allele frequency: 1.250312578144536e-4
allele num: 7998
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.516e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 8663
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.362000141720008e-5
allele num: 42337
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Other
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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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 frequency: 0.0e0
allele num: 7927
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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allele num: 543
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East Asian
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allele frequency: 1.66472448809722e-4
allele num: 6007
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41858
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.586017e6

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5999
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.392058366224136e-5
allele num: 41805
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8583
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

FS
type: SiteQuality
SIO_000300: 2.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.584012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.937e0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 4836
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8583
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8067
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3817
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7445
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 1.424827e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
all individuals: 1328
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.322401481089659e-4
allele num: 7562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7337
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 469
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3173
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.242489e6

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

QD
type: SiteQuality
SIO_000300: 2.417e1

VQSLOD
type: SiteQuality
SIO_000300: -5.068e-1

GenotypeQuality
all individuals: 10872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7397
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6777
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.00390507659958e-5
allele num: 33290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4721
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3237
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7631
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.288953e6

FS
type: SiteQuality
SIO_000300: 9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.118e0

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.03e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
all individuals: 537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7119
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7563
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.114961271911944e-4
allele num: 4906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7787
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3357
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.368543e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.593e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6452
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.727471088806459e-5
allele num: 36664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3563
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5197
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.444716e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.559e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25020
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 5
allele frequency: 5.773672055427252e-4
allele num: 8660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8387
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.318679710180283e-5
allele num: 40991
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3955
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 1.584012e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.73e-2

QD
type: SiteQuality
SIO_000300: 1.66e1

FS
type: SiteQuality
SIO_000300: 5.419e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.72e-1

GenotypeQuality
all individuals: 943
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5823
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.400268830108972e-5
allele num: 41662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4021
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8741
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.60564e6

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4035
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.769911504424779e-3
allele num: 565
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8773
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41911
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.252e0

FS
type: SiteQuality
SIO_000300: 2.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 9.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 1.611747e6

VQSLOD
type: SiteQuality
SIO_000300: -8.012e-1

GenotypeQuality
all individuals: 1948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9207
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8937
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8347
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4291
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.237236565394425e-5
allele num: 44698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.699485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
all individuals: 766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4291
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8937
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9207
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8347
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.237236565394425e-5
allele num: 44698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 4.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

DP
type: SiteQuality
SIO_000300: 1.699485e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1726
bin: 8.25e1
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GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9281
num of homozygotes: 0

African
type: Population
allele count: 237
allele frequency: 2.835606604450825e-2
allele num: 8358
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4319
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 8.896797153024911e-4
allele num: 8992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45029
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.658374792703151e-3
allele num: 603
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.972e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.646e0

FS
type: SiteQuality
SIO_000300: 1.258e0

VQSLOD
type: SiteQuality
SIO_000300: 1.329e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.72262e6

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4353
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8401
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.134243944082809e-4
allele num: 9371
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

DP
type: SiteQuality
SIO_000300: 1.733137e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeQuality
all individuals: 1740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.559332605644784e-4
allele num: 6413
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.699434536755111e-5
allele num: 45980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9109
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4377
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 2.69e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.95e-2

DP
type: SiteQuality
SIO_000300: 1.746746e6

FS
type: SiteQuality
SIO_000300: 1.097e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.014e0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9257
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6591
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.104642842109694e-5
allele num: 47514
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e0

FS
type: SiteQuality
SIO_000300: 3.256e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.789e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.799546e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e0

GenotypeQuality
all individuals: 39414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6621
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47885
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.175778953556731e-4
allele num: 8505
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.075384449940854e-4
allele num: 9299
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.000500250125063e-4
allele num: 9995
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.816238e6

FS
type: SiteQuality
SIO_000300: 3.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.22e-2

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6622
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 1
allele frequency: 1.175502527330434e-4
allele num: 8507
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9301
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.176150007308262e-5
allele num: 47891
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6625
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.816942e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 2.183e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.038e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 1780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10027
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9303
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086942003881712e-5
allele num: 47917
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8509
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.236e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.22e-2

DP
type: SiteQuality
SIO_000300: 1.817898e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.625e0

VQSLOD
type: SiteQuality
SIO_000300: -1.881e0

QD
type: SiteQuality
SIO_000300: 2.567e1

GenotypeQuality
all individuals: 994
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9307
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.943323058566172e-5
allele num: 10057
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47937
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.217e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.335e0

FS
type: SiteQuality
SIO_000300: 1.812e0

DP
type: SiteQuality
SIO_000300: 1.819525e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.797e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10091
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.169185549602885e-5
allele num: 47971
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.165e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.064e-1

QD
type: SiteQuality
SIO_000300: 1.876e1

FS
type: SiteQuality
SIO_000300: 2.381e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

DP
type: SiteQuality
SIO_000300: 1.821795e6