X-18643248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643248
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643248
    reference: chr 0
allele count: 1
allele frequency: 1.139640101655897e-5
allele num: 87747
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2377G>A
  hgvsp: ENSP00000369325.3:p.Val793Ile
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2377G>A
  hgvsp: ENSP00000369332.3:p.Val793Ile
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.75e1
  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
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val793Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

X-18643260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643260
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643260
    reference: chr 0
allele count: 33
allele frequency: 3.760855195678436e-4
allele num: 87746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2389G>A
  hgvsp: ENSP00000369332.3:p.Asp797Asn
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2389G>A
  hgvsp: ENSP00000369325.3:p.Asp797Asn
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1954
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp797Asn
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 8.336112037345781e-5
  allele num: 47984
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

X-18643260-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643260
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643260
    reference: chr 0
allele count: 1
allele frequency: 1.139653089599526e-5
allele num: 87746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2389G>C
  hgvsp: ENSP00000369332.3:p.Asp797His
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2389G>C
  hgvsp: ENSP00000369325.3:p.Asp797His
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1954
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  variant carriers: 0
hgvs: p.Asp797His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47984
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

X-18643265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643265
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643265
    reference: chr 0
allele count: 1
allele frequency: 1.139640101655897e-5
allele num: 87747
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2394C>T
  hgvsp: ENST00000379996.3:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2394C>T
  hgvsp: ENST00000379989.3:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3625
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Ser798Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

X-18643266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643266
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643266
    reference: chr 0
allele count: 1
allele frequency: 1.139614126656714e-5
allele num: 87749
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2395C>G
  hgvsp: ENSP00000369325.3:p.Pro799Ala
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2395C>G
  hgvsp: ENSP00000369332.3:p.Pro799Ala
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro799Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-18643280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643280
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643280
    reference: chr 0
allele count: 33
allele frequency: 3.761155244532078e-4
allele num: 87739
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2409G>A
  hgvsp: ENST00000379996.3:c.2409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2409G>A
  hgvsp: ENST00000379989.3:c.2409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
  all individuals: 1416
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  variant carriers: 0
hgvs: p.Thr803Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

X-18643316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643316
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643316
    reference: chr 0
allele count: 12
allele frequency: 1.367723993298152e-4
allele num: 87737
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2445C>T
  hgvsp: ENST00000379996.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2445C>T
  hgvsp: ENST00000379989.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  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 quality: GenotypeQuality
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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.Ser815Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.073076510355188e-4
  allele num: 9319
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

X-18643335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643335
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643335
    reference: chr 0
allele count: 1
allele frequency: 1.139912910653626e-5
allele num: 87726
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2464C>T
  hgvsp: ENSP00000369325.3:p.Arg822Cys
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2464C>T
  hgvsp: ENSP00000369332.3:p.Arg822Cys
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 8.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 63
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  variant carriers: 0
hgvs: p.Arg822Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

X-18643336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643336
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643336
    reference: chr 0
allele count: 3
allele frequency: 3.419855682090216e-5
allele num: 87723
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2465G>A
  hgvsp: ENSP00000369325.3:p.Arg822His
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2465G>A
  hgvsp: ENSP00000369332.3:p.Arg822His
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.75e1
  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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  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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  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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  bin: 8.25e1
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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
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg822His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

X-18643337-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643337
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643337
    reference: chr 0
allele count: 21
allele frequency: 2.393789825253343e-4
allele num: 87727
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2466C>G
  hgvsp: ENST00000379996.3:c.2466C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2466C>G
  hgvsp: ENST00000379989.3:c.2466C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 17
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 46107
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3228
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg822Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

X-18643340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643340
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643340
    reference: chr 0
allele count: 3
allele frequency: 3.419699750361918e-5
allele num: 87727
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2469C>T
  hgvsp: ENST00000379996.3:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2469C>T
  hgvsp: ENST00000379989.3:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 4.75e1
  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 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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  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
  all individuals: 68
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genotype quality: GenotypeQuality
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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: 2502
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro823Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

X-18643341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643341
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643341
    reference: chr 0
allele count: 1
allele frequency: 1.139899916787306e-5
allele num: 87727
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2470G>A
  hgvsp: ENSP00000369325.3:p.Glu824Lys
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2470G>A
  hgvsp: ENSP00000369332.3:p.Glu824Lys
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
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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 depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1414
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu824Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47973
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

X-18643353-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643353
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643353
    reference: chr 0
allele count: 4
allele frequency: 4.559807576120288e-5
allele num: 87723
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2482G>C
  hgvsp: ENSP00000369332.3:p.Asp828His
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2482G>C
  hgvsp: ENSP00000369325.3:p.Asp828His
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp828His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8515
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

X-18643356-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643356
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643356
    reference: chr 0
allele count: 1
allele frequency: 1.139990880072959e-5
allele num: 87720
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2485C>G
  hgvsp: ENSP00000369325.3:p.Leu829Val
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2485C>G
  hgvsp: ENSP00000369332.3:p.Leu829Val
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2502
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  variant carriers: 0
hgvs: p.Leu829Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 632
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

X-18643357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643357
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643357
    reference: chr 0
allele count: 1
allele frequency: 1.139990880072959e-5
allele num: 87720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2486T>C
  hgvsp: ENSP00000369332.3:p.Leu829Pro
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2486T>C
  hgvsp: ENSP00000369325.3:p.Leu829Pro
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Leu829Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8513
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

X-18643374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643374
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643374
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87711
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2496+7G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2496+7G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: c.2496+7G>A
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10119
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

X-18643383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643383
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643383
    reference: chr 0
allele count: 3
allele frequency: 3.420557550880794e-5
allele num: 87705
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2496+16A>G
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2496+16A>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6636
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-18643405-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643405
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643405
    reference: chr 0
allele count: 2
allele frequency: 2.280787784100628e-5
allele num: 87689
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2496+38C>G
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2496+38C>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3628
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8509
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

X-18643405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018643405
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018643405
    reference: chr 0
allele count: 1
allele frequency: 1.140393892050314e-5
allele num: 87689
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2496+38C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2496+38C>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

X-18646440-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646440
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646440
    reference: chr 0
allele count: 1
allele frequency: 1.141800162135623e-5
allele num: 87581
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-51T>G
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-51T>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
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 (Non-Finnish)
  type: Population
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  allele num: 47998
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population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

X-18646442-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646442
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646442
    reference: chr 0
allele count: 1
allele frequency: 1.141813199360585e-5
allele num: 87580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-49A>G
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-49A>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
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  allele num: 47997
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population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-18646443-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646443
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646443
    reference: chr 0
allele count: 1
allele frequency: 1.141748016212822e-5
allele num: 87585
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-48T>C
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-48T>C
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  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
  all individuals: 180
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
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genotype depth: GenotypeDepth
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45469
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

X-18646448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646448
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646448
    reference: chr 0
allele count: 4
allele frequency: 4.566366428074021e-5
allele num: 87597
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-43G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-43G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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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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  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 631
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-18646464-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646464
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646464
    reference: chr 0
allele count: 1
allele frequency: 1.140953380644867e-5
allele num: 87646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-27T>C
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-27T>C
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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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: 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)
  type: Population
  allele count: 1
  allele frequency: 2.083376737015354e-5
  allele num: 47999
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

X-18646471-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646471
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646470
    reference: chr 0
allele count: 1
allele frequency: 1.140589000159682e-5
allele num: 87674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-18delT
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-18delT
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 45738
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 48000
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: AT
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

X-18646474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646474
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646474
    reference: chr 0
allele count: 4
allele frequency: 4.561523548865321e-5
allele num: 87690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2497-17C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2497-17C>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
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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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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 4
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10125
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
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site quality: BaseQRankSum

X-18646492-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646492
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646492
    reference: chr 0
allele count: 4
allele frequency: 4.566731362027629e-5
allele num: 87590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2498G>C
  hgvsp: ENSP00000369325.3:p.Ser833Thr
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2498G>C
  hgvsp: ENSP00000369332.3:p.Ser833Thr
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Ser833Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
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site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
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X-18646534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646534
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646534
    reference: chr 0
allele count: 1
allele frequency: 1.139445318019188e-5
allele num: 87762
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2540C>T
  hgvsp: ENSP00000369325.3:p.Ser847Leu
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2540C>T
  hgvsp: ENSP00000369332.3:p.Ser847Leu
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
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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.Ser847Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

X-18646535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646535
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646535
    reference: chr 0
allele count: 9
allele frequency: 1.02551247137111e-4
allele num: 87761
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2541G>A
  hgvsp: ENST00000379996.3:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2541G>A
  hgvsp: ENST00000379989.3:c.2541G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34186
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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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hgvs: p.Ser847Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

X-18646541-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646541
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646541
    reference: chr 0
allele count: 1
allele frequency: 1.139445318019188e-5
allele num: 87762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2547A>C
  hgvsp: ENST00000379996.3:c.2547A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2547A>C
  hgvsp: ENST00000379989.3:c.2547A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34190
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 45940
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser849Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

X-18646545-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646545
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646545
    reference: chr 0
allele count: 4
allele frequency: 4.557833206093823e-5
allele num: 87761
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2551C>A
  hgvsp: ENSP00000369325.3:p.His851Asn
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2551C>A
  hgvsp: ENSP00000369332.3:p.His851Asn
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 29
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 100
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genotype depth: GenotypeDepth
  all individuals: 58
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 559
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1660
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2008
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His851Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 8.333506948061417e-5
  allele num: 47999
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-18646546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646546
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646546
    reference: chr 0
allele count: 1
allele frequency: 1.139458301523456e-5
allele num: 87761
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2552A>G
  hgvsp: ENSP00000369325.3:p.His851Arg
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2552A>G
  hgvsp: ENSP00000369332.3:p.His851Arg
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 16
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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: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 132
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1660
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  variant carriers: 0
hgvs: p.His851Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9323
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-18646550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646550
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646550
    reference: chr 0
allele count: 1
allele frequency: 1.139432334810797e-5
allele num: 87763
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2556G>A
  hgvsp: ENST00000379996.3:c.2556G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2556G>A
  hgvsp: ENST00000379989.3:c.2556G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1577
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2008
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genotype quality: GenotypeQuality
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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: 1660
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  variant carriers: 0
hgvs: p.Pro852Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9323
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

X-18646561-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646561
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646561
    reference: chr 0
allele count: 2
allele frequency: 2.278838703796545e-5
allele num: 87764
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2567A>T
  hgvsp: ENSP00000369325.3:p.Asp856Val
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2567A>T
  hgvsp: ENSP00000369332.3:p.Asp856Val
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 100
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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: 2006
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp856Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6638
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-18646566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646566
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646566
    reference: chr 0
allele count: 2
allele frequency: 2.278890636038377e-5
allele num: 87762
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2572C>T
  hgvsp: ENSP00000369332.3:p.Arg858Cys
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2572C>T
  hgvsp: ENSP00000369325.3:p.Arg858Cys
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
  all individuals: 9995
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  variant carriers: 0
hgvs: p.Arg858Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

X-18646567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646567
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646567
    reference: chr 0
allele count: 1
allele frequency: 1.13947128532361e-5
allele num: 87760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2573G>A
  hgvsp: ENSP00000369325.3:p.Arg858His
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2573G>A
  hgvsp: ENSP00000369332.3:p.Arg858His
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5
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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
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hgvs: p.Arg858His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10123
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-18646581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646581
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646581
    reference: chr 0
allele count: 1
allele frequency: 1.139484269419661e-5
allele num: 87759
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2587A>G
  hgvsp: ENSP00000369332.3:p.Thr863Ala
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2587A>G
  hgvsp: ENSP00000369325.3:p.Thr863Ala
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34191
  bin: 2.75e1
  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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hgvs: p.Thr863Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

X-18646646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646646
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646646
    reference: chr 0
allele count: 38
allele frequency: 4.336859885187341e-4
allele num: 87621
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2652C>T
  hgvsp: ENST00000379989.3:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2652C>T
  hgvsp: ENST00000379996.3:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
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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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hgvs: p.Gly884Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4530
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

X-18646647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646647
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646647
    reference: chr 0
allele count: 1
allele frequency: 1.141344046749452e-5
allele num: 87616
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2653G>A
  hgvsp: ENSP00000369332.3:p.Gly885Arg
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2653G>A
  hgvsp: ENSP00000369325.3:p.Gly885Arg
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  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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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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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: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly885Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-18646667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646667
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646667
    reference: chr 0
allele count: 6
allele frequency: 6.86600981839404e-5
allele num: 87387
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2673G>A
  hgvsp: ENST00000379989.3:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2673G>A
  hgvsp: ENST00000379996.3:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1614
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln891Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 6.290890790135883e-5
  allele num: 47688
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

X-18646671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646671
    reference: chr 0
allele count: 8
allele frequency: 9.170105456212746e-5
allele num: 87240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2677C>T
  hgvsp: ENSP00000369325.3:p.Pro893Ser
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2677C>T
  hgvsp: ENSP00000369332.3:p.Pro893Ser
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 163
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  variant carriers: 8
hgvs: p.Pro893Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47575
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

X-18646674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646674
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646674
    reference: chr 0
allele count: 6
allele frequency: 6.885550671914987e-5
allele num: 87139
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2680G>A
  hgvsp: ENSP00000369325.3:p.Ala894Thr
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2680G>A
  hgvsp: ENSP00000369332.3:p.Ala894Thr
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
hgvs: p.Ala894Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47498
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

X-18646678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646678
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646678
    reference: chr 0
allele count: 1
allele frequency: 1.147934292241112e-5
allele num: 87113
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2684C>T
  hgvsp: ENSP00000369325.3:p.Pro895Leu
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
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canonical: true
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population: Latino
  type: Population
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  allele num: 9313
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population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
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X-18646723-G-T
type: Variant
location: Region
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    reference: chr 0
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    reference: chr 0
allele count: 1
allele frequency: 1.208912100001209e-5
allele num: 82719
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
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  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+16G>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+16G>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
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X-18646772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646772
    reference: chr 0
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    type: ExactPosition
    position: 24018646772
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allele count: 0
allele frequency: 0.0e0
allele num: 57198
alternate allele: T
annotation: Annotation
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  gene symbol: CDKL5
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  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
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  ensembl gene: ENSG00000008086
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  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+65C>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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population: African
population: European (Non-Finnish)
population: South Asian
population: Other
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population: European (Finnish)
reference allele: C
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X-18646773-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646773
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646773
    reference: chr 0
allele count: 5
allele frequency: 8.74676369743195e-5
allele num: 57164
alternate allele: A
annotation: Annotation
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  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+66T>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+66T>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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population: European (Finnish)
population: African
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population: South Asian
reference allele: T
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X-18646786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646786
    reference: chr 0
  end: Position
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    reference: chr 0
allele count: 1
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allele num: 49243
alternate allele: T
annotation: Annotation
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  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+79G>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000008086
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  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+79G>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
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genotype depth: GenotypeDepth
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population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
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site quality: ReadPosRankSum
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X-18646788-G-T
type: Variant
location: Region
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    reference: chr 0
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allele count: 1
allele frequency: 2.065816927303902e-5
allele num: 48407
alternate allele: T
annotation: Annotation
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  gene symbol: CDKL5
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  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+81G>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
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X-18646808-G-A
type: Variant
location: Region
  begin: Position
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    position: 24018646808
    reference: chr 0
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allele count: 1
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allele num: 35721
alternate allele: A
annotation: Annotation
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  gene symbol: CDKL5
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  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
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  ensembl gene: ENSG00000008086
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  gene symbol: CDKL5
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  variant of: http://identifiers.org/hgnc/11411
canonical: true
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population: European (Finnish)
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site quality: ClippingRankSum
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X-18646830-C-G
type: Variant
location: Region
  begin: Position
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    position: 24018646830
    reference: chr 0
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allele count: 1
allele frequency: 5.130573085013596e-5
allele num: 19491
alternate allele: G
annotation: Annotation
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  gene symbol: CDKL5
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  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
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  ensembl gene: ENSG00000008086
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  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+123C>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
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genotype depth: GenotypeDepth
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X-18646833-T-A
type: Variant
location: Region
  begin: Position
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    reference: chr 0
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allele count: 2
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annotation: Annotation
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  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
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  ensembl gene: ENSG00000008086
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  variant of: http://identifiers.org/hgnc/11411
canonical: true
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 600
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genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 941
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

X-18646891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646891
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646891
    reference: chr 0
allele count: 1
allele frequency: 9.891196834817012e-4
allele num: 1011
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+184G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+184G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  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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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

X-18646891-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646891
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646891
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 1011
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+184G>C
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+184G>C
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17219
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

X-18646927-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018646927
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018646927
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 141
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2713+220T>G
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2713+220T>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
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  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

X-18660073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660073
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660073
    reference: chr 0
allele count: 3
allele frequency: 3.604729404979333e-5
allele num: 83224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*51C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4054G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1217C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4054G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
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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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

X-18660078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660078
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660078
    reference: chr 0
allele count: 2
allele frequency: 2.402488978581811e-5
allele num: 83247
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1212C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4049G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*46C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4049G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 8.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 1918
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

X-18660087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660087
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660087
    reference: chr 0
allele count: 13
allele frequency: 1.558379285543035e-4
allele num: 83420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*37G>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4040C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1203G>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4040C>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
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 depth: GenotypeDepth
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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: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

X-18660094-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660094
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660094
    reference: chr 0
allele count: 1
allele frequency: 1.196931068739751e-5
allele num: 83547
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4033C>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*30G>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4033C>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1196G>T
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  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 quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

X-18660094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660094
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660094
    reference: chr 0
allele count: 1
allele frequency: 1.196931068739751e-5
allele num: 83547
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4033C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*30G>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4033C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1196G>A
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5363
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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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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

X-18660095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660095
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660095
    reference: chr 0
allele count: 2
allele frequency: 2.392516209297318e-5
allele num: 83594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1195G>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*29G>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4032C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4032C>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.25e1
  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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  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: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  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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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 20160
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

X-18660099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660099
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660099
    reference: chr 0
allele count: 1
allele frequency: 1.194914444125801e-5
allele num: 83688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1191C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*25C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4028G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4028G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 15460
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

X-18660109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660109
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660109
    reference: chr 0
allele count: 27
allele frequency: 3.200303436177652e-4
allele num: 84367
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4018G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1181C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4018G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1900
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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: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 555
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

X-18660111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660111
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660111
    reference: chr 0
allele count: 66
allele frequency: 7.806862942241042e-4
allele num: 84541
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4016G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*13C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1179C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4016G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  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 depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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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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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: 2959
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-18660121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660121
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660121
    reference: chr 0
allele count: 1
allele frequency: 1.172855433839225e-5
allele num: 85262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1169C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4006G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4006G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*3C>T
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-18660122-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660122
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660122
    reference: chr 0
allele count: 16
allele frequency: 1.87522707827901e-4
allele num: 85323
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1168G>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*2G>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4005C>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4005C>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 956
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11434
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 840
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20206
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18098
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

X-18660123-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660123
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660123
    reference: chr 0
allele count: 1
allele frequency: 1.170836797058858e-5
allele num: 85409
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4004A>G
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.*1T>C
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1167T>C
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4004A>G
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20205
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  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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genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

X-18660127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660127
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660127
    reference: chr 0
allele count: 5
allele frequency: 5.839075090505664e-5
allele num: 85630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-4000G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-4000G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1163C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.672C>T
  hgvsp: ENST00000379984.3:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  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: 3008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.25e1
  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: 1
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 4
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
  all individuals: 295
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 18412
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genotype quality: GenotypeQuality
  all individuals: 3497
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 327
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala224Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-18660170-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660170
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660170
    reference: chr 0
allele count: 3
allele frequency: 3.448077696684099e-5
allele num: 87005
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.629T>G
  hgvsp: ENSP00000369320.3:p.Ile210Ser
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3957A>C
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3957A>C
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1120T>G
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 19417
  bin: 6.25e1
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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: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile210Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

X-18660170-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660170
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660170
    reference: chr 0
allele count: 1
allele frequency: 1.149359232228033e-5
allele num: 87005
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1120T>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3957A>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3957A>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.629T>A
  hgvsp: ENSP00000369320.3:p.Ile210Asn
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
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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 depth: GenotypeDepth
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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: 2757
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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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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile210Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-18660177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660177
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660177
    reference: chr 0
allele count: 1
allele frequency: 1.147947469923776e-5
allele num: 87112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3950C>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1113G>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.622G>A
  hgvsp: ENSP00000369320.3:p.Val208Ile
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3950C>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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 depth: GenotypeDepth
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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
  all individuals: 3062
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  variant carriers: 0
hgvs: p.Val208Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

X-18660199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660199
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660199
    reference: chr 0
allele count: 1
allele frequency: 1.144505230388903e-5
allele num: 87374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3928G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1091C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3928G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.600C>T
  hgvsp: ENST00000379984.3:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3060
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  variant carriers: 0
hgvs: p.Arg200Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

X-18660202-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660202
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660202
    reference: chr 0
allele count: 5
allele frequency: 5.720561988009702e-5
allele num: 87404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1088C>A
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.597C>A
  hgvsp: ENST00000379984.3:c.597C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3925G>T
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3925G>T
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20235
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6303
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile199Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-18660216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660216
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660216
    reference: chr 0
allele count: 1
allele frequency: 1.142831021005234e-5
allele num: 87502
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.583A>G
  hgvsp: ENSP00000369320.3:p.Ile195Val
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3911T>C
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1074A>G
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3911T>C
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
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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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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3594
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20025
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1699
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genotype quality: GenotypeQuality
  all individuals: 20233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3063
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile195Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

X-18660223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660223
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660223
    reference: chr 0
allele count: 68
allele frequency: 7.768587488004387e-4
allele num: 87532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3904G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3904G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1067C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.576C>T
  hgvsp: ENST00000379984.3:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 20080
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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: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Pro192Pro
num of homozygotes: 2
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

X-18660228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660228
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660228
    reference: chr 0
allele count: 4
allele frequency: 4.568609086963474e-5
allele num: 87554
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.571C>T
  hgvsp: ENSP00000369320.3:p.Arg191Trp
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3899G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1062C>T
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3899G>A
  variant of: http://identifiers.org/hgnc/11411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6337
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genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg191Trp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

X-18660234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660234
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660234
    reference: chr 0
allele count: 2
allele frequency: 2.283652473766542e-5
allele num: 87579
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.565C>T
  hgvsp: ENST00000379984.3:c.565C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3893G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3893G>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1056C>T
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20236
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu189Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

X-18660244-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24018660244
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24018660244
    reference: chr 0
allele count: 1
allele frequency: 1.141826236883271e-5
allele num: 87579
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369332
  ensembl transcript: ENST00000379996
  gene symbol: CDKL5
  hgvsc: ENST00000379996.3:c.2714-3883C>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102104
  ensembl protein: ENSP00000369320
  ensembl transcript: ENST00000379984
  gene symbol: RS1
  hgvsc: ENST00000379984.3:c.555G>T
  hgvsp: ENST00000379984.3:c.555G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10457
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000008086
  ensembl protein: ENSP00000369325
  ensembl transcript: ENST00000379989
  gene symbol: CDKL5
  hgvsc: ENST00000379989.3:c.2714-3883C>A
  variant of: http://identifiers.org/hgnc/11411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000102104
  ensembl transcript: ENST00000476595
  gene symbol: RS1
  hgvsc: ENST00000476595.1:n.1046G>T
  variant of: http://identifiers.org/hgnc/10457
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr185Thr
num of homozygotes: 0
reference allele: C

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
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: 9322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 2.463e0

MQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

DP
type: SiteQuality
SIO_000300: 3.858044e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e0

African
type: Population
allele count: 1
allele frequency: 1.174122343548198e-4
allele num: 8517
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.789400278940028e-3
allele num: 9321
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: 4530
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.15955766192733e-3
allele num: 633
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.834e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.624e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.754e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 3.860602e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

African
type: Population
allele count: 1
allele frequency: 1.174122343548198e-4
allele num: 8517
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 3.860602e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.834e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.754e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.624e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083941149501938e-5
allele num: 47986
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.878e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 3.858325e6

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07284626113078e-4
allele num: 9321
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: 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: 10123
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.275e1

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.688e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 7.296e0

DP
type: SiteQuality
SIO_000300: 3.858403e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

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

African
type: Population
allele count: 30
allele frequency: 3.523608174770966e-3
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47983
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.976284584980237e-4
allele num: 10120
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.07284626113078e-4
allele num: 9321
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 1.525e1

FS
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 3.860836e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.179e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47981
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.291989664082687e-3
allele num: 8514
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.681e-1

DP
type: SiteQuality
SIO_000300: 3.857854e6

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e0

QD
type: SiteQuality
SIO_000300: 1.514e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.506e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084462417142619e-5
allele num: 47974
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 1.078e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.468e0

DP
type: SiteQuality
SIO_000300: 3.85629e6

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10121
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: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.253647961310765e-5
allele num: 47972
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.71e-2

DP
type: SiteQuality
SIO_000300: 3.856368e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.251e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.911e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

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

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

African
type: Population
allele count: 21
allele frequency: 2.466236054022314e-3
allele num: 8515
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47973
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South Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.77e-2

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.148e-1

FS
type: SiteQuality
SIO_000300: 7.297e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10121
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.169011735768036e-5
allele num: 47973
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African
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allele count: 1
allele frequency: 1.174398120963006e-4
allele num: 8515
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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Latino
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.598e0

DP
type: SiteQuality
SIO_000300: 3.855972e6

VQSLOD
type: SiteQuality
SIO_000300: -7.511e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

East Asian
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allele num: 6638
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10121
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
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Latino
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allele frequency: 1.073306858430825e-4
allele num: 9317
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.684e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 3.85589e6

South Asian
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allele num: 10120
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9317
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.338371099205771e-5
allele num: 47971
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

FS
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.293e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 3.855628e6

QD
type: SiteQuality
SIO_000300: 1.609e1

South Asian
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 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
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47970
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.96e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.855272e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 3.855251e6

FS
type: SiteQuality
SIO_000300: 5.606e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

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

Other
type: Population
allele count: 0
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allele num: 632
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47965
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Latino
type: Population
allele count: 0
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allele num: 9317
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 3.854217e6

FS
type: SiteQuality
SIO_000300: 2.367e0

QD
type: SiteQuality
SIO_000300: 1.17e0

Other
type: Population
allele count: 0
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allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9317
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.254691018263698e-5
allele num: 47964
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European (Finnish)
type: Population
allele count: 0
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South Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.138e0

FS
type: SiteQuality
SIO_000300: 1.7204e1

VQSLOD
type: SiteQuality
SIO_000300: -2.566e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.12e-2

DP
type: SiteQuality
SIO_000300: 3.85286e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

QD
type: SiteQuality
SIO_000300: 1.691e1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6635
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47950
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Latino
type: Population
allele count: 0
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allele num: 9317
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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South Asian
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allele count: 2
allele frequency: 1.977066034005536e-4
allele num: 10116
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.34e-2

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.847695e6

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 3.444e1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10116
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.085505735140772e-5
allele num: 47950
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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Latino
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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South Asian
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African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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Latino
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Other
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

African
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.57e-1

Latino
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Other
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East Asian
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European (Non-Finnish)
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African
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South Asian
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.935e1

South Asian
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allele frequency: 9.876543209876543e-5
allele num: 10125
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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African
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Latino
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allele count: 2
allele frequency: 2.145002145002145e-4
allele num: 9324
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East Asian
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allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.365e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.695107e6

Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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allele num: 4530
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.593e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

DP
type: SiteQuality
SIO_000300: 1.696155e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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East Asian
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num of homozygotes: 0

Latino
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allele num: 9324
num of homozygotes: 0

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

African
type: Population
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Other
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allele num: 631
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South Asian
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allele frequency: 9.876543209876543e-5
allele num: 10125
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.45e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.032e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.696424e6

African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.333333333333333e-5
allele num: 48000
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East Asian
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allele count: 0
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.649e0

VQSLOD
type: SiteQuality
SIO_000300: 9.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.627e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

FS
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 3.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08467968896579e-5
allele num: 47969
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 9324
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4444
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African
type: Population
allele count: 3
allele frequency: 3.543586109142452e-4
allele num: 8466
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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East Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.841e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 2.38844e2

MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.759e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.951e0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47999
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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South Asian
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allele num: 10125
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African
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allele frequency: 1.174674027957242e-4
allele num: 8513
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.687e0

VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

ReadPosRankSum
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SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.487e1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
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South Asian
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allele count: 1
allele frequency: 9.876543209876543e-5
allele num: 10125
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.66673611400475e-4
allele num: 47998
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 1.68211e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.131e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.424e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47999
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South Asian
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allele count: 0
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allele num: 10125
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Latino
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allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
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DP
type: SiteQuality
SIO_000300: 1.680105e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 1.419e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9323
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
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East Asian
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South Asian
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Other
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MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 1.680135e6

FS
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083376737015354e-5
allele num: 47999
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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African
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.877e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.679017e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.625e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47999
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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East Asian
type: Population
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allele frequency: 1.506477854775535e-4
allele num: 6638
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MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.678861e6

QD
type: SiteQuality
SIO_000300: 1.28e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.779999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.542e0

VQSLOD
type: SiteQuality
SIO_000300: -1.847e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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African
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allele count: 1
allele frequency: 1.174122343548198e-4
allele num: 8517
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9323
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.083376737015354e-5
allele num: 47999
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.39e-2

FS
type: SiteQuality
SIO_000300: 1.868e0

QD
type: SiteQuality
SIO_000300: 1.848e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.083376737015354e-5
allele num: 47999
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

African
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allele count: 0
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Other
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

Other
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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Other
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South Asian
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Latino
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African
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East Asian
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allele count: 29
allele frequency: 4.368785778849051e-3
allele num: 6638
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European (Non-Finnish)
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.776e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e0

East Asian
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Other
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African
type: Population
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

South Asian
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Other
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African
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European (Finnish)
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Latino
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East Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

South Asian
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Latino
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European (Finnish)
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African
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East Asian
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Other
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.585e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.587301587301587e-3
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.942665085013839e-4
allele num: 10116
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

DP
type: SiteQuality
SIO_000300: 1.648955e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.68e-2

FS
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.78e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.399e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.507159005275056e-4
allele num: 6635
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10113
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: 5.722e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

DP
type: SiteQuality
SIO_000300: 1.646793e6

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

QD
type: SiteQuality
SIO_000300: 2.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 1.912e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.227121890381061e-5
allele num: 44901
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9017
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 1.465895e6

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.871e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5691
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30331
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7483
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2833
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.83224e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

QD
type: SiteQuality
SIO_000300: 2.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.785e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.64923970049807e-4
allele num: 30317
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6077
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.81641e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.415e0

VQSLOD
type: SiteQuality
SIO_000300: -6.385e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2387
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.845414343395501e-5
allele num: 26005
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.817e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 7.53632e5

MQ
type: SiteQuality
SIO_000300: 5.849e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.049600327936052e-4
allele num: 4879
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2341
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4901
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

DP
type: SiteQuality
SIO_000300: 7.43061e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -5.76e-2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.342165713980447e-5
allele num: 18719
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 5.63798e5

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

QD
type: SiteQuality
SIO_000300: 1.168e1

VQSLOD
type: SiteQuality
SIO_000300: -2.425e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1235
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10337
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 763
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.15e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

QD
type: SiteQuality
SIO_000300: 1.543e1

VQSLOD
type: SiteQuality
SIO_000300: -1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 3.62345e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 141
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 933
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8871
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 5.64652738565782e-4
allele num: 3542
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.518e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.368e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.46e-2

DP
type: SiteQuality
SIO_000300: 3.33661e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 69
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 105
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 5.3475935828877e-3
allele num: 187
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.630000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.3838e4

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 187
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 69
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 105
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.630000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 6.3838e4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 4.3652e4

MQ
type: SiteQuality
SIO_000300: 5.662e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.275e-1

QD
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
all individuals: 2257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 595
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.605892456070815e-5
allele num: 45414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9159
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6449
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9901
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.572e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.065857e6

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7439
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9913
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9163
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.404510218463707e-5
allele num: 45408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6449
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 6.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 2.077164e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 980
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7475
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4307
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9927
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.593841352177066e-5
allele num: 45497
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.09051254089422e-3
allele num: 9170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

FS
type: SiteQuality
SIO_000300: 5.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

DP
type: SiteQuality
SIO_000300: 2.100809e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 2377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9935
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9171
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.194329851663302e-5
allele num: 45572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6459
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 595
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

FS
type: SiteQuality
SIO_000300: 2.793e0

VQSLOD
type: SiteQuality
SIO_000300: -2.544e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.115705e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 2.886e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9935
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6459
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.334044823906083e-4
allele num: 7496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9171
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 595
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.886e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -2.544e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

FS
type: SiteQuality
SIO_000300: 2.793e0

DP
type: SiteQuality
SIO_000300: 2.115705e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4321
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9947
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.387311894002545e-5
allele num: 45586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 7.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.36e-1

DP
type: SiteQuality
SIO_000300: 2.117522e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9951
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 597
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45639
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.329610424145725e-4
allele num: 7521
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.127028e6

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

GenotypeQuality
all individuals: 3380
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variant carriers: 0

GenotypeQuality
all individuals: 20183
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.522732216663041e-4
allele num: 45970
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: 9200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9997
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.652892561983471e-3
allele num: 605
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 4.358797889424179e-3
allele num: 4359
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 2.456e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 2.153549e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3386
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.604788469469709e-4
allele num: 46069
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 4.101512432709562e-3
allele num: 7802
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.647446457990115e-3
allele num: 607
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 4.587155963302753e-3
allele num: 4360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.086366105377512e-4
allele num: 9205
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.545e-1

DP
type: SiteQuality
SIO_000300: 2.158498e6

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.995e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 1785
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3466
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.153037936528442e-5
allele num: 46446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4397
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9225
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.175291e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.156e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 3.012566706834223e-4
allele num: 46472
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.167551750298038e-4
allele num: 9227
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6511
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4407
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 2.177033e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.359999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.524e1

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6515
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46521
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.240540875821858e-4
allele num: 8061
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.177741e6

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 5.025e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.529753709652746e-4
allele num: 6537
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.082251082251082e-4
allele num: 9240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10061
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4423
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.431281754453663e-5
allele num: 46647
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.721e0

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

DP
type: SiteQuality
SIO_000300: 2.182649e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.842e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3062
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
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: 8367
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.224766204450177e-4
allele num: 9303
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6609
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.691e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.212087e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.322e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6609
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8367
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 1.691e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.322e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

DP
type: SiteQuality
SIO_000300: 2.212087e6

GenotypeQuality
all individuals: 20226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47575
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6609
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.597444089456869e-3
allele num: 626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.947e1

DP
type: SiteQuality
SIO_000300: 2.215208e6

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.882399446585631e-5
allele num: 10119
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
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: 6621
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47747
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 2.222079e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.33e-2

QD
type: SiteQuality
SIO_000300: 3.437e1

GenotypeQuality
all individuals: 3589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.046879252946965e-4
allele num: 47761
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: 6621
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: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.222905e6

QD
type: SiteQuality
SIO_000300: 2.559e1

FS
type: SiteQuality
SIO_000300: 2.127e0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.522e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 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: 1
allele frequency: 9.878494517435543e-5
allele num: 10123
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8471
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47818
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.22501e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.144e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.469999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 1698
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20253
bin: 9.75e1
variant carriers: 59

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8473
num of homozygotes: 0

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

East Asian
type: Population
allele count: 53
allele frequency: 8.0e-3
allele num: 6625
num of homozygotes: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.180514621349888e-5
allele num: 47841
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 1.284204287266621e-3
allele num: 10123
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.229356e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.882e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.531e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.787e1

GenotypeQuality
all individuals: 3061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20236
bin: 9.75e1
variant carriers: 4

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.878494517435543e-5
allele num: 10123
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.269068416433318e-5
allele num: 47854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.249e-1

QD
type: SiteQuality
SIO_000300: 1.876e1

MQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

DP
type: SiteQuality
SIO_000300: 2.226806e6

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.667e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 2.358768722726737e-4
allele num: 8479
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47875
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 5.117e0

DP
type: SiteQuality
SIO_000300: 2.227213e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0