14-50799045-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799045
    reference: chr 14
allele count: 833
allele frequency: 6.861501457966096e-3
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*333A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+91T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.344A>G
  hgvsp: ENSP00000435044.1:p.Asn116Asp
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.904A>G
  hgvsp: ENSP00000379176.1:p.Asn302Asp
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2146A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42657
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 749
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 816
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Asn302Asp
num of homozygotes: 16
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

14-50799045-TGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799042
    reference: chr 14
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.901_903delCAC
  hgvsp: ENSP00000379176.1:p.His301del
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+92_701+94delGTG
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*330_*332delCAC
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.341_343delCAC
  hgvsp: ENSP00000435044.1:p.His115del
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2149_141-2147delCAC
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His301del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TGTG
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-50799052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799052
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799052
    reference: chr 14
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+98T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*326A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.337A>G
  hgvsp: ENST00000534267.1:c.337A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2153A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.897A>G
  hgvsp: ENST00000395834.1:c.897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys299Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

14-50799055-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799055
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799055
    reference: chr 14
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2156A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*323A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+101T>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.894A>C
  hgvsp: ENST00000395834.1:c.894A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.334A>C
  hgvsp: ENST00000534267.1:c.334A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala298Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-50799060-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799060
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799060
    reference: chr 14
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*318T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+106A>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.329T>G
  hgvsp: ENSP00000435044.1:p.Leu111Val
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.889T>G
  hgvsp: ENSP00000379176.1:p.Leu297Val
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2161T>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu297Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-50799064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799064
    reference: chr 14
allele count: 8
allele frequency: 6.59043727551323e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.885G>A
  hgvsp: ENST00000395834.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+110C>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2165G>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.325G>A
  hgvsp: ENST00000534267.1:c.325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*314G>A
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu295Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-50799065-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799065
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799065
    reference: chr 14
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+111T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.884A>G
  hgvsp: ENSP00000379176.1:p.Glu295Gly
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2166A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.324A>G
  hgvsp: ENSP00000435044.1:p.Glu109Gly
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*313A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu295Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-50799076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799076
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799076
    reference: chr 14
allele count: 20
allele frequency: 1.647799363949446e-4
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.313C>T
  hgvsp: ENST00000534267.1:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.873C>T
  hgvsp: ENST00000395834.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*302C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.141-2177C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+122G>A
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile291Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

14-50799091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799091
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799091
    reference: chr 14
allele count: 6
allele frequency: 4.944294284395807e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+137T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.298A>G
  hgvsp: ENST00000534267.1:c.298A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*287A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.858A>G
  hgvsp: ENST00000395834.1:c.858A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2192A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro286Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-50799094-G-GTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799097
    reference: chr 14
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: GTGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*281_*283dupTCA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.292_294dupTCA
  hgvsp: ENSP00000435044.1:p.His99dup
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2186_140+2188dupTCA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.852_854dupTCA
  hgvsp: ENSP00000379176.1:p.His285dup
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+143_701+145dupATG
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His285dup
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-50799100-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799100
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799100
    reference: chr 14
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*278G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+146C>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.289G>C
  hgvsp: ENSP00000435044.1:p.Leu97Phe
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.849G>C
  hgvsp: ENSP00000379176.1:p.Leu283Phe
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2183G>C
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu283Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-50799116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799116
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799116
    reference: chr 14
allele count: 6
allele frequency: 4.949923276189219e-5
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.273C>T
  hgvsp: ENSP00000435044.1:p.Thr92Ile
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2167C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*262C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.833C>T
  hgvsp: ENSP00000379176.1:p.Thr278Ile
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+162G>A
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr278Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

14-50799126-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799126
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799126
    reference: chr 14
allele count: 69648
allele frequency: 5.75365551425031e-1
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2157C>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+172G>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.263C>G
  hgvsp: ENSP00000435044.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*252C>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.823C>G
  hgvsp: ENSP00000379176.1:p.Gln275Glu
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 8.75e1
  variant carriers: 3364
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 595
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 8.25e1
  variant carriers: 3378
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 7.75e1
  variant carriers: 3116
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 2667
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 806
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 9.25e1
  variant carriers: 3513
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 3.25e1
  variant carriers: 1182
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 429
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 562
genotype depth: GenotypeDepth
  all individuals: 22080
  bin: 9.75e1
  variant carriers: 22065
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 6.25e1
  variant carriers: 1635
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 824
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 2.75e1
  variant carriers: 1133
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 6.75e1
  variant carriers: 2202
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 2.25e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 1151
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 6.75e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 187
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.25e1
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 9044
  bin: 6.25e1
  variant carriers: 119
hgvs: p.Gln275Glu
num of homozygotes: 20065
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-50799130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799130
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799130
    reference: chr 14
allele count: 3
allele frequency: 2.494221719682735e-5
allele num: 120278
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.819T>C
  hgvsp: ENST00000395834.1:c.819T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*248T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.259T>C
  hgvsp: ENST00000534267.1:c.259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+176A>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2153T>C
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro273Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

14-50799131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799131
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799131
    reference: chr 14
allele count: 1
allele frequency: 8.323899580475461e-6
allele num: 120136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.818C>T
  hgvsp: ENSP00000379176.1:p.Pro273Leu
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+177G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2152C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*247C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.258C>T
  hgvsp: ENSP00000435044.1:p.Pro87Leu
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro273Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/14-50799153-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799153
    reference: chr 14
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*225T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-3T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+199A>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2130T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-3T>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6715
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28403
  bin: 6.25e1
  variant carriers: 0
hgvs: c.799-3T>G
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

14-50799155-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799153
    reference: chr 14
allele count: 24
allele frequency: 2.029735626934592e-4
allele num: 118242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-7_799-6delCT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2126_140+2127delCT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*221_*222delCT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-7_239-6delCT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+203_701+204delGA
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17216
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6726
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
hgvs: c.799-7_799-6delCT
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AAG
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-50799160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799160
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799160
    reference: chr 14
allele count: 1
allele frequency: 8.484066922319883e-6
allele num: 117868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-10G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2123G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*218G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-10G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+206C>A
  variant of: http://identifiers.org/hgnc/18799
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

14-50799161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799161
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799161
    reference: chr 14
allele count: 1
allele frequency: 8.479175145841813e-6
allele num: 117936
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-11T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+207A>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2122T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*217T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-11T>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

14-50799164-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799164
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799164
    reference: chr 14
allele count: 1
allele frequency: 8.497043029025899e-6
allele num: 117688
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-14T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2119T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-14T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+210A>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*214T>A
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

14-50799166-ATTCCTTCTTCTTACTTCTTCAAAATTGTATTAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799166
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799132
    reference: chr 14
allele count: 1
allele frequency: 8.512521919743944e-6
allele num: 117474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: ATTCCTTCTTCTTACTTCTTCAAAATTGTATTAAC
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-50799169-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799169
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799169
    reference: chr 14
allele count: 1
allele frequency: 8.538980445734779e-6
allele num: 117110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-19G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-19G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*209G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+215C>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2114G>T
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-50799169-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799169
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799166
    reference: chr 14
allele count: 830
allele frequency: 7.087353769959867e-3
allele num: 117110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-22_239-20delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2111_140+2113delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-22_799-20delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*206_*208delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+222_701+224delCTT
  variant of: http://identifiers.org/hgnc/18799
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 9.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 4.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 3.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 9.75e1
  variant carriers: 814
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 16
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: CCTT
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-50799175-TCTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799175
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799171
    reference: chr 14
allele count: 5
allele frequency: 4.30581629665352e-5
allele num: 116122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+225_701+228delACTT
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-29_799-26delTAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2104_140+2107delTAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-29_239-26delTAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*199_*202delTAAG
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: TCTTA
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

14-50799179-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799179
    reference: chr 14
allele count: 17
allele frequency: 1.469367998893652e-4
allele num: 115696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*199T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2104T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+225A>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-29T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-29T>A
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-50799179-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799176
    reference: chr 14
allele count: 2
allele frequency: 1.728668233992532e-5
allele num: 115696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-32_239-30delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*196_*198delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-32_799-30delAAG
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+230_701+232delTTC
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2101_140+2103delAAG
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: ACTT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS

14-50799182-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799182
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799182
    reference: chr 14
allele count: 111
allele frequency: 9.624722530521643e-4
allele num: 115328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+228T>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-32A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-32A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*196A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2101A>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/14-50799183-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799183
    reference: chr 14
allele count: 1
allele frequency: 8.676036786395974e-6
allele num: 115260
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-33G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+229C>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-33G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*195G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2100G>T
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

14-50799183-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799183
    reference: chr 14
allele count: 1
allele frequency: 8.676036786395974e-6
allele num: 115260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+229C>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-33G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2100G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*195G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-33G>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

14-50799184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799184
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799184
    reference: chr 14
allele count: 1
allele frequency: 8.690513435533772e-6
allele num: 115068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-34A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-34A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*194A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+230T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2099A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

14-50799186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799186
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799186
    reference: chr 14
allele count: 1
allele frequency: 8.708980700898767e-6
allele num: 114824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-36G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2097G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*192G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+232C>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-36G>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-50799196-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799196
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799196
    reference: chr 14
allele count: 1
allele frequency: 8.875949726620749e-6
allele num: 112664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+242T>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-46A>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-46A>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*182A>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2087A>T
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9970
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

14-50799201-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799201
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799201
    reference: chr 14
allele count: 1
allele frequency: 8.932718762282489e-6
allele num: 111948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*177A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+2082A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-51A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-51A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+247T>G
  variant of: http://identifiers.org/hgnc/18799
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

14-50799330-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799330
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799330
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 14462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+376T>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*48A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-180A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1953A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-180A>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-50799338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799338
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799338
    reference: chr 14
allele count: 8138
allele frequency: 5.699677826026054e-1
allele num: 14278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1945A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-188A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*40A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+384T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-188A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 624
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.25e1
  variant carriers: 1004
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 7.5e0
  variant carriers: 2797
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 803
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 965
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 711
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.5e0
  variant carriers: 4255
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 1122
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 1324
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 1079
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 235
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 282
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 731
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 249
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 9.75e1
  variant carriers: 4283
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 7.5e0
  variant carriers: 2540
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 328
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.25e1
  variant carriers: 280
num of homozygotes: 2317
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

14-50799351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799351
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799351
    reference: chr 14
allele count: 1
allele frequency: 8.058017727639001e-5
allele num: 12410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-201A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+397T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-201A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*27A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1932A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-50799373-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799373
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799373
    reference: chr 14
allele count: 1
allele frequency: 8.629616845012081e-5
allele num: 11588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-223G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*5G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+419C>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-223G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1910G>T
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

14-50799374-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799374
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799374
    reference: chr 14
allele count: 1
allele frequency: 8.629616845012081e-5
allele num: 11588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-224G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-224G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*4G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1909G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+420C>G
  variant of: http://identifiers.org/hgnc/18799
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-50799376-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799376
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799376
    reference: chr 14
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-226G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-226G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*2G>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+422C>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1907G>T
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

14-50799377-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799377
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799377
    reference: chr 14
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.*1G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-227G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+423C>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-227G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1906G>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-50799378-T-TAGAATGAAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799378
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799389
    reference: chr 14
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
alternate allele: TAGAATGAAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsp: ENSP00000216378.2:p.Ter277Tyr
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ter277Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-50799404-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50799404
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50799404
    reference: chr 14
allele count: 11
allele frequency: 9.849570200573066e-4
allele num: 11168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+1879G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.239-254G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.701+450C>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.799-254G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.805G>C
  hgvsp: ENSP00000216378.2:p.Val269Leu
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.75e1
  variant carriers: 11
hgvs: p.Val269Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

14-50801232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801232
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801232
    reference: chr 14
allele count: 9
allele frequency: 7.420110147412856e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+51A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+51A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+51A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-945T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+51A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-50801232-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801232
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801232
    reference: chr 14
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+51A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+51A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-945T>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+51A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+51A>C
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8700
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-50801233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801233
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801233
    reference: chr 14
allele count: 725
allele frequency: 5.977409514387006e-3
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+50C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-944G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+50C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+50C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+50C>T
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 9.75e1
  variant carriers: 597
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 18
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-50801235-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801235
    reference: chr 14
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+48A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+48A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+48A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+48A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-942T>C
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

14-50801241-CTGCTGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801241
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801234
    reference: chr 14
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+35_238+41delCACAGCA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+35_140+41delCACAGCA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+35_798+41delCACAGCA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+35_798+41delCACAGCA
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31906
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3438
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: CTGCTGTG
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

14-50801246-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801246
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801246
    reference: chr 14
allele count: 9
allele frequency: 7.419743112005144e-5
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+37C>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+37C>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-931G>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+37C>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+37C>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31906
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

14-50801254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801254
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801254
    reference: chr 14
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+29G>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-923C>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+29G>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+29G>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+29G>A
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-50801255-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801255
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801255
    reference: chr 14
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+28G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+28G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-922C>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+28G>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+28G>C
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31896
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-50801259-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801259
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801259
    reference: chr 14
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+24A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-918T>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+24A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+24A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+24A>C
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-50801263-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801263
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801263
    reference: chr 14
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+20A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+20A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+20A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+20A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-914T>C
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-50801266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801266
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801266
    reference: chr 14
allele count: 287
allele frequency: 2.365566582044773e-3
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+17C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+17C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-911G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+17C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+17C>T
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 9.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 3
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-50801269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801269
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801269
    reference: chr 14
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-908G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+14C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+14C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+14C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+14C>T
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

14-50801272-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801272
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801271
    reference: chr 14
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+10delA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-904delT
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+10delA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+10delA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+10delA
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: AT
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-50801273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801273
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801273
    reference: chr 14
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.798+10A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.798+10A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.238+10A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-904T>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.140+10A>G
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31784
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-50801288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801288
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801288
    reference: chr 14
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.793C>G
  hgvsp: ENSP00000379176.1:p.Leu265Val
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.233C>G
  hgvsp: ENSP00000435044.1:p.Leu79Val
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-889G>C
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.135C>G
  hgvsp: ENSP00000431449.1:p.Leu46Val
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.793C>G
  hgvsp: ENSP00000216378.2:p.Leu265Val
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu265Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/14-50801292-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801292
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.789G>T
  hgvsp: ENST00000395834.1:c.789G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.131G>T
  hgvsp: ENST00000525911.1:c.131G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.789G>T
  hgvsp: ENST00000216378.2:c.789G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.229G>T
  hgvsp: ENST00000534267.1:c.229G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-885C>A
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31782
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly263Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-50801292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801292
    reference: chr 14
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-885C>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.789G>A
  hgvsp: ENST00000216378.2:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.789G>A
  hgvsp: ENST00000395834.1:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.131G>A
  hgvsp: ENST00000525911.1:c.131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.229G>A
  hgvsp: ENST00000534267.1:c.229G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31782
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly263Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

14-50801319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801319
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801319
    reference: chr 14
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.104C>T
  hgvsp: ENST00000525911.1:c.104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-858G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.762C>T
  hgvsp: ENST00000216378.2:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.762C>T
  hgvsp: ENST00000395834.1:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.202C>T
  hgvsp: ENST00000534267.1:c.202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe254Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

14-50801325-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801325
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801325
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.756A>T
  hgvsp: ENSP00000216378.2:p.Leu252Phe
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.196A>T
  hgvsp: ENSP00000435044.1:p.Leu66Phe
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.756A>T
  hgvsp: ENSP00000379176.1:p.Leu252Phe
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.98A>T
  hgvsp: ENSP00000431449.1:p.Leu33Phe
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-852T>A
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu252Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

14-50801330-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801330
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801330
    reference: chr 14
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.191G>C
  hgvsp: ENSP00000435044.1:p.Glu65Gln
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.751G>C
  hgvsp: ENSP00000379176.1:p.Glu251Gln
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.751G>C
  hgvsp: ENSP00000216378.2:p.Glu251Gln
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.93G>C
  hgvsp: ENSP00000431449.1:p.Glu32Gln
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-847C>G
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu251Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-50801336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801336
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801336
    reference: chr 14
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.87C>T
  hgvsp: ENSP00000431449.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-841G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.745C>T
  hgvsp: ENSP00000216378.2:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.185C>T
  hgvsp: ENSP00000435044.1:p.Pro63Ser
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.745C>T
  hgvsp: ENSP00000379176.1:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31774
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro249Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-50801341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801341
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801341
    reference: chr 14
allele count: 3
allele frequency: 2.477373323644051e-5
allele num: 121096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-2A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-2A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-2A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-2A>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-836T>C
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.742-2A>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

14-50801344-TGAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801344
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801339
    reference: chr 14
allele count: 3
allele frequency: 2.478355693609147e-5
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-10_742-6delTTTTC
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-10_182-6delTTTTC
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-10_742-6delTTTTC
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-10_84-6delTTTTC
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-825_702-821delAAAGA
  variant of: http://identifiers.org/hgnc/18799
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31774
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: c.742-10_742-6delTTTTC
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: TGAAAA
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-50801348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801348
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801348
    reference: chr 14
allele count: 26
allele frequency: 2.148973451912586e-4
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-829A>G
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-9T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-9T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-9T>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-9T>C
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31776
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

14-50801358-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801358
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801358
    reference: chr 14
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-19C>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-19C>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-819G>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-19C>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-19C>A
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

14-50801358-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801358
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801357
    reference: chr 14
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-20delA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-20delA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-20delA
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-814delT
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-20delA
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31749
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: GT
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-50801374-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801374
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801374
    reference: chr 14
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-35T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-35T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-803A>T
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-35T>A
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-35T>A
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

14-50801376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50801376
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50801376
    reference: chr 14
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-37C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-801G>A
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-37C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-37C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-37C>T
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-50802129-T-TAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50802129
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50802133
    reference: chr 14
allele count: 1
allele frequency: 7.195279896387969e-5
allele num: 13898
alternate allele: TAAAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-794_182-791dupGTTT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.702-46_702-43dupAACA
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-794_742-791dupGTTT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-794_742-791dupGTTT
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-794_84-791dupGTTT
  variant of: http://identifiers.org/hgnc/1781
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-50802188-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50802188
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50802188
    reference: chr 14
allele count: 1
allele frequency: 7.047216349541931e-5
allele num: 14190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-849T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.713A>C
  hgvsp: ENSP00000351258.1:p.Lys238Thr
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-849T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-849T>G
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-849T>G
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys238Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

14-50802198-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50802198
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50802198
    reference: chr 14
allele count: 12
allele frequency: 8.450704225352113e-4
allele num: 14200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.723T>G
  hgvsp: ENST00000358473.1:c.723T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-859A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-859A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-859A>C
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-859A>C
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 3
hgvs: p.Pro241Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

14-50802210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 50802210
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 50802210
    reference: chr 14
allele count: 10
allele frequency: 7.040270346381301e-4
allele num: 14204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000431449
  ensembl transcript: ENST00000525911
  gene symbol: CDKL1
  hgvsc: ENST00000525911.1:c.84-871C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000216378
  ensembl transcript: ENST00000216378
  gene symbol: CDKL1
  hgvsc: ENST00000216378.2:c.742-871C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000435044
  ensembl transcript: ENST00000534267
  gene symbol: CDKL1
  hgvsc: ENST00000534267.1:c.182-871C>T
  variant of: http://identifiers.org/hgnc/1781
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125375
  ensembl protein: ENSP00000351258
  ensembl transcript: ENST00000358473
  gene symbol: ATP5S
  hgvsc: ENST00000358473.1:c.735G>A
  hgvsp: ENST00000358473.1:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18799
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100490
  ensembl protein: ENSP00000379176
  ensembl transcript: ENST00000395834
  gene symbol: CDKL1
  hgvsc: ENST00000395834.1:c.742-871C>T
  variant of: http://identifiers.org/hgnc/1781
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser245Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 43321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 536
allele frequency: 5.150874495483375e-2
allele num: 10406
num of homozygotes: 15

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 81
allele frequency: 6.996026947659354e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 191
allele frequency: 2.862195048852125e-3
allele num: 66732
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.029678982434888e-3
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.607e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 1.603175e6

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.603175e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.607e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeQuality
all individuals: 2021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.553e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.352e1

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

DP
type: SiteQuality
SIO_000300: 1.538807e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeQuality
all individuals: 43327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.789999999999999e0

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

DP
type: SiteQuality
SIO_000300: 1.538831e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 1.5485e1

VQSLOD
type: SiteQuality
SIO_000300: -2.687e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.216e0

GenotypeQuality
all individuals: 43318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.509e0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.347e0

DP
type: SiteQuality
SIO_000300: 1.539014e6

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.68787238131847e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.689e0

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.540098e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 749
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2018
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.385e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -1.618e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.539437e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.061e0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 749
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43275
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.997961386257345e-4
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 1.541212e6

FS
type: SiteQuality
SIO_000300: 2.051e0

GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43199
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

FS
type: SiteQuality
SIO_000300: 1.259e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.539649e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-1

GenotypeQuality
all individuals: 747
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2018
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43164
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.539368e6

MQ
type: SiteQuality
SIO_000300: 5.573e1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.498e1

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

GenotypeQuality
all individuals: 872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.5258e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

DP
type: SiteQuality
SIO_000300: 1.538424e6

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499910001799964e-5
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.261e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.892e0

FS
type: SiteQuality
SIO_000300: 2.109e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.533685e6

GenotypeQuality
all individuals: 48379
bin: 9.75e1
variant carriers: 48328

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 59

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 108

GenotypeQuality
all individuals: 196
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 19

GenotypeQuality
all individuals: 344
bin: 7.25e1
variant carriers: 97

East Asian
type: Population
allele count: 5355
allele frequency: 6.189320388349514e-1
allele num: 8652
num of homozygotes: 1659

European (Finnish)
type: Population
allele count: 3900
allele frequency: 5.901937046004843e-1
allele num: 6608
num of homozygotes: 1159

African
type: Population
allele count: 6119
allele frequency: 5.89158482572694e-1
allele num: 10386
num of homozygotes: 1787

Latino
type: Population
allele count: 6061
allele frequency: 5.242172634492303e-1
allele num: 11562
num of homozygotes: 1579

South Asian
type: Population
allele count: 8971
allele frequency: 5.488864415075869e-1
allele num: 16344
num of homozygotes: 2493

Other
type: Population
allele count: 534
allele frequency: 5.946547884187082e-1
allele num: 898
num of homozygotes: 167

European (Non-Finnish)
type: Population
allele count: 38708
allele frequency: 5.812012012012012e-1
allele num: 66600
num of homozygotes: 11221

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 2.388e1

FS
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 5.190539e6

GenotypeQuality
all individuals: 1097
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6774
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 2.058012e6

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.512e0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.152e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.054592e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 2.759e1

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517128379403465e-5
allele num: 65914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.709e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

DP
type: SiteQuality
SIO_000300: 2.007093e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

African
type: Population
allele count: 23
allele frequency: 2.233877233877234e-3
allele num: 10296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.782e1

QD
type: SiteQuality
SIO_000300: 8.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 8.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

DP
type: SiteQuality
SIO_000300: 2.006416e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.931e0

GenotypeQuality
all individuals: 1241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3701
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.7792e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.667e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e0

QD
type: SiteQuality
SIO_000300: 1.413e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.847e0

DP
type: SiteQuality
SIO_000300: 1.998283e6

GenotypeQuality
all individuals: 1241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6706
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 658
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.657e1

DP
type: SiteQuality
SIO_000300: 1.997673e6

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521467912241731e-5
allele num: 65726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.858e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

FS
type: SiteQuality
SIO_000300: 2.126e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 1.991078e6

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.242e0

FS
type: SiteQuality
SIO_000300: 5.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.984867e6

MQ
type: SiteQuality
SIO_000300: 5.146e1

VQSLOD
type: SiteQuality
SIO_000300: -1.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.518e0

GenotypeQuality
all individuals: 2754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.218131947451999e-5
allele num: 13854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.332e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

DP
type: SiteQuality
SIO_000300: 1.966328e6

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 9129
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 529
allele frequency: 5.174100156494522e-2
allele num: 10224
num of homozygotes: 14

South Asian
type: Population
allele count: 20
allele frequency: 1.4436263894904e-3
allele num: 13854
num of homozygotes: 1

East Asian
type: Population
allele count: 6
allele frequency: 6.986492780624127e-4
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 188
allele frequency: 2.86935286935287e-3
allele num: 65520
num of homozygotes: 1

Latino
type: Population
allele count: 80
allele frequency: 6.980802792321117e-3
allele num: 11460
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.597701149425287e-3
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.549590536851683e-4
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.332e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

DP
type: SiteQuality
SIO_000300: 1.966328e6

MQ
type: SiteQuality
SIO_000300: 5.662e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4795
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068237604320078e-5
allele num: 65184
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.748906386701662e-5
allele num: 11430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13310
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.236e0

MQ
type: SiteQuality
SIO_000300: 5.719e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

DP
type: SiteQuality
SIO_000300: 1.908459e6

MQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 9.75e1
variant carriers: 17

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.305422353375138e-4
allele num: 65064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.034901365705615e-4
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

DP
type: SiteQuality
SIO_000300: 1.885021e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6638
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25244
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.073896471166851e-5
allele num: 65064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.49e1

DP
type: SiteQuality
SIO_000300: 1.885021e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2002
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6693
bin: 9.75e1
variant carriers: 112

GenotypeQuality
all individuals: 1326
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 106
allele frequency: 1.04474669820619e-2
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64958
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.381352961794602e-4
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.652e1

DP
type: SiteQuality
SIO_000300: 1.860775e6

GenotypeQuality
all individuals: 2316
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.342e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.677e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.858066e6

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.854158454867954e-5
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.858066e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.677e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 1183
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6608
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541592156379108e-5
allele num: 64868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 1.84078e6

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

FS
type: SiteQuality
SIO_000300: 2.631e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.16e1

GenotypeQuality
all individuals: 1999
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 5.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.241e0

DP
type: SiteQuality
SIO_000300: 1.830483e6

GenotypeQuality
all individuals: 799
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2958
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566906925728612e-5
allele num: 63820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.727123e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 2.607e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
all individuals: 6607
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.007861318282604e-4
allele num: 9922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.795e1

QD
type: SiteQuality
SIO_000300: 1.149e1

DP
type: SiteQuality
SIO_000300: 1.720003e6

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

MQRankSum
type: SiteQuality
SIO_000300: -1.381e0

FS
type: SiteQuality
SIO_000300: 2.993e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.359e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.97e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 2.47761e5

QD
type: SiteQuality
SIO_000300: 1.012e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 140

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 185

GenotypeQuality
all individuals: 384
bin: 6.75e1
variant carriers: 201

GenotypeQuality
all individuals: 688
bin: 6.25e1
variant carriers: 217

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 246

Other
type: Population
allele count: 91
allele frequency: 6.066666666666667e-1
allele num: 150
num of homozygotes: 31

East Asian
type: Population
allele count: 232
allele frequency: 6.55367231638418e-1
allele num: 354
num of homozygotes: 76

African
type: Population
allele count: 482
allele frequency: 6.163682864450127e-1
allele num: 782
num of homozygotes: 135

Latino
type: Population
allele count: 180
allele frequency: 6.25e-1
allele num: 288
num of homozygotes: 56

South Asian
type: Population
allele count: 4271
allele frequency: 5.538122406639004e-1
allele num: 7712
num of homozygotes: 1204

European (Finnish)
type: Population
allele count: 29
allele frequency: 5.576923076923077e-1
allele num: 52
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 2853
allele frequency: 5.775303643724696e-1
allele num: 4940
num of homozygotes: 807

VQSLOD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.822e-1

QD
type: SiteQuality
SIO_000300: 2.477e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 2.53652e5

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.620545073375262e-4
allele num: 3816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 2.08352e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.539999999999999e-2

QD
type: SiteQuality
SIO_000300: 3.225e1

MQRankSum
type: SiteQuality
SIO_000300: -2.058e0

VQSLOD
type: SiteQuality
SIO_000300: -2.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.028467595396729e-4
allele num: 3302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.583e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.589e0

DP
type: SiteQuality
SIO_000300: 1.85271e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.567e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.59e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.37e0

MQ
type: SiteQuality
SIO_000300: 5.45e1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.033980582524272e-4
allele num: 3296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.560000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.295e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 1.85353e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 7.6e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
all individuals: 847
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.059975520195838e-4
allele num: 3268
num of homozygotes: 0

European (Finnish)
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: 172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.907e0

FS
type: SiteQuality
SIO_000300: 1.547e0

MQ
type: SiteQuality
SIO_000300: 5.433e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 5.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.807e0

DP
type: SiteQuality
SIO_000300: 1.83654e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

GenotypeQuality
all individuals: 732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.071253071253071e-4
allele num: 3256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.791e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.42e1

VQSLOD
type: SiteQuality
SIO_000300: -2.913e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

DP
type: SiteQuality
SIO_000300: 1.83112e5

QD
type: SiteQuality
SIO_000300: 6.09e0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
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: 168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.082614056720099e-4
allele num: 3244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.264e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

FS
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.82522e5

MQ
type: SiteQuality
SIO_000300: 5.42e1

MQRankSum
type: SiteQuality
SIO_000300: -4.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

QD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 3.632760898282695e-3
allele num: 3028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 1.152e0

QD
type: SiteQuality
SIO_000300: 8.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.24e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

DP
type: SiteQuality
SIO_000300: 1.7313e5

GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32197
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.182968e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

FS
type: SiteQuality
SIO_000300: 2.109e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32197
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3662
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 3.182968e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 4210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32206
bin: 9.75e1
variant carriers: 705

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.998740176375308e-5
allele num: 66676
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.332008982553118e-3
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 689
allele frequency: 6.621180088410532e-2
allele num: 10406
num of homozygotes: 18

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.294e1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.95e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

DP
type: SiteQuality
SIO_000300: 3.181061e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.012e0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31911
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.261e0

DP
type: SiteQuality
SIO_000300: 3.087232e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.657e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 3.08816e6

FS
type: SiteQuality
SIO_000300: 1.0131e1

MQRankSum
type: SiteQuality
SIO_000300: -7.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.295e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 5.403e1

GenotypeQuality
all individuals: 3696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 4.858496295396575e-4
allele num: 16466
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.245e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 5.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 1.719e1

VQSLOD
type: SiteQuality
SIO_000300: -8.012e-1

DP
type: SiteQuality
SIO_000300: 3.089221e6

GenotypeQuality
all individuals: 3358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.456e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e0

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 3.090384e6

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 3.090485e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

MQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31896
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 2.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

DP
type: SiteQuality
SIO_000300: 3.091187e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.316e1

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.091721e6

FS
type: SiteQuality
SIO_000300: 4.914e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31900
bin: 9.75e1
variant carriers: 284

GenotypeQuality
all individuals: 3695
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.998200359928014e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 259
allele frequency: 2.488948683451855e-2
allele num: 10406
num of homozygotes: 3

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.641043358092935e-3
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.24e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.144e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 3.102152e6

GenotypeQuality
all individuals: 3452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31786
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.135e1

FS
type: SiteQuality
SIO_000300: 2.729e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.099e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.051611e6

GenotypeQuality
all individuals: 3705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31785
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3451
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 3.052084e6

MQ
type: SiteQuality
SIO_000300: 6.029e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 10391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3451
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.052061e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.044e0

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 1.748e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
all individuals: 4245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31783
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3706
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.424e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.391e0

DP
type: SiteQuality
SIO_000300: 3.052296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 5.183e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 10475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.051959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 5.687e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 5.687e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 3.051959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31777
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4230
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.176e0

FS
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.050499e6

QD
type: SiteQuality
SIO_000300: 1.254e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31776
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.308e1

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: -2.038e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 3.049816e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.049011e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.874e0

FS
type: SiteQuality
SIO_000300: 1.595e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.046e0

QD
type: SiteQuality
SIO_000300: 3.56e0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 3.047228e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.404e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.867e0

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 31773
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3706
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.258e0

FS
type: SiteQuality
SIO_000300: 1.827e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 3.045243e6

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10163
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.622e0

QD
type: SiteQuality
SIO_000300: 1.068e1

FS
type: SiteQuality
SIO_000300: 5.308e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.043648e6

MQ
type: SiteQuality
SIO_000300: 5.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeQuality
all individuals: 10083
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.578627808136005e-3
allele num: 16470
num of homozygotes: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.041354e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.694e1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31749
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.031159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

FS
type: SiteQuality
SIO_000300: 2.501e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 6.98e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 4.528e1

GenotypeQuality
all individuals: 9590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503668952243474e-5
allele num: 66504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.98e0

MQ
type: SiteQuality
SIO_000300: 4.528e1

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 3.031159e6

FS
type: SiteQuality
SIO_000300: 2.501e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 3425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.999802e6

GenotypeQuality
all individuals: 1756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31742
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.234e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.159e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 2.999269e6

GenotypeQuality
all individuals: 1132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.32520540683806e-4
allele num: 7546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.415e1

MQRankSum
type: SiteQuality
SIO_000300: -1.557e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.73614e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.123e0

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.267e0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.78e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.01e-2

QD
type: SiteQuality
SIO_000300: 9.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 4.009e0

VQSLOD
type: SiteQuality
SIO_000300: -2.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.878e0

DP
type: SiteQuality
SIO_000300: 1.93262e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 5.434782608695652e-3
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.792114695340502e-2
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.585315408479835e-4
allele num: 3868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.892e0

DP
type: SiteQuality
SIO_000300: 1.93635e5

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 2.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2