19-18378118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378118
    reference: chr 19
allele count: 4
allele frequency: 3.304146704113662e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.232C>T
  hgvsp: ENSP00000376213.2:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.94C>T
  hgvsp: ENSP00000472912.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.232C>T
  hgvsp: ENSP00000476292.1:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.232C>T
  hgvsp: ENSP00000470780.1:p.Arg78Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.94C>T
  hgvsp: ENSP00000476085.2:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg78Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-18378120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378120
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378120
    reference: chr 19
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.92G>A
  hgvsp: ENSP00000476085.2:p.Arg31His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.230G>A
  hgvsp: ENSP00000376213.2:p.Arg77His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.230G>A
  hgvsp: ENSP00000476292.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.230G>A
  hgvsp: ENSP00000470780.1:p.Arg77His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.92G>A
  hgvsp: ENSP00000472912.1:p.Arg31His
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3595
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg77His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

19-18378121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378121
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378121
    reference: chr 19
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.229C>T
  hgvsp: ENSP00000470780.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.229C>T
  hgvsp: ENSP00000476292.1:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.229C>T
  hgvsp: ENSP00000376213.2:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.91C>T
  hgvsp: ENSP00000472912.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.91C>T
  hgvsp: ENSP00000476085.2:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3353
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg77Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-18378122-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378122
    reference: chr 19
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.90C>G
  hgvsp: ENST00000600359.3:c.90C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.90C>G
  hgvsp: ENST00000595654.2:c.90C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.228C>G
  hgvsp: ENST00000600328.3:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.228C>G
  hgvsp: ENST00000392413.4:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.228C>G
  hgvsp: ENST00000608950.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser76Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

19-18378125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378125
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378125
    reference: chr 19
allele count: 3
allele frequency: 2.479338842975207e-5
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.225G>A
  hgvsp: ENST00000608950.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.87G>A
  hgvsp: ENST00000595654.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.225G>A
  hgvsp: ENST00000600328.3:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.225G>A
  hgvsp: ENST00000392413.4:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.87G>A
  hgvsp: ENST00000600359.3:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21229
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala75Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-18378126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378126
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378126
    reference: chr 19
allele count: 2
allele frequency: 1.652974527662529e-5
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.86C>T
  hgvsp: ENSP00000472912.1:p.Ala29Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.224C>T
  hgvsp: ENSP00000476292.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.224C>T
  hgvsp: ENSP00000470780.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.224C>T
  hgvsp: ENSP00000376213.2:p.Ala75Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.86C>T
  hgvsp: ENSP00000476085.2:p.Ala29Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala75Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-18378129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378129
    reference: chr 19
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.221C>T
  hgvsp: ENSP00000476292.1:p.Thr74Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.221C>T
  hgvsp: ENSP00000376213.2:p.Thr74Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.83C>T
  hgvsp: ENSP00000476085.2:p.Thr28Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.83C>T
  hgvsp: ENSP00000472912.1:p.Thr28Met
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.221C>T
  hgvsp: ENSP00000470780.1:p.Thr74Met
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21230
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr74Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

19-18378129-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378129
    reference: chr 19
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.83C>G
  hgvsp: ENSP00000472912.1:p.Thr28Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.221C>G
  hgvsp: ENSP00000476292.1:p.Thr74Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.83C>G
  hgvsp: ENSP00000476085.2:p.Thr28Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.221C>G
  hgvsp: ENSP00000470780.1:p.Thr74Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.221C>G
  hgvsp: ENSP00000376213.2:p.Thr74Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21230
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr74Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-18378135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378135
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378135
    reference: chr 19
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.77G>A
  hgvsp: ENSP00000476085.2:p.Gly26Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.77G>A
  hgvsp: ENSP00000472912.1:p.Gly26Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.215G>A
  hgvsp: ENSP00000470780.1:p.Gly72Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.215G>A
  hgvsp: ENSP00000376213.2:p.Gly72Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.215G>A
  hgvsp: ENSP00000476292.1:p.Gly72Asp
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18077
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly72Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-18378138-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378138
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378138
    reference: chr 19
allele count: 7
allele frequency: 5.786941353482912e-5
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.212A>C
  hgvsp: ENSP00000470780.1:p.Glu71Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.212A>C
  hgvsp: ENSP00000376213.2:p.Glu71Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.212A>C
  hgvsp: ENSP00000476292.1:p.Glu71Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.74A>C
  hgvsp: ENSP00000472912.1:p.Glu25Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.74A>C
  hgvsp: ENSP00000476085.2:p.Glu25Ala
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21235
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu71Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-18378139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378139
    reference: chr 19
allele count: 3
allele frequency: 2.480445818795165e-5
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.73G>A
  hgvsp: ENSP00000476085.2:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.73G>A
  hgvsp: ENSP00000472912.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.211G>A
  hgvsp: ENSP00000470780.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.211G>A
  hgvsp: ENSP00000476292.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.211G>A
  hgvsp: ENSP00000376213.2:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21232
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu71Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-18378140-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378140
    reference: chr 19
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.72C>G
  hgvsp: ENST00000595654.2:c.72C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.210C>G
  hgvsp: ENST00000600328.3:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.210C>G
  hgvsp: ENST00000608950.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.210C>G
  hgvsp: ENST00000392413.4:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.72C>G
  hgvsp: ENST00000600359.3:c.72C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala70Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-18378150-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378150
    reference: chr 19
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.62A>T
  hgvsp: ENSP00000472912.1:p.Gln21Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.62A>T
  hgvsp: ENSP00000475861.1:p.Gln21Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.200A>T
  hgvsp: ENSP00000376213.2:p.Gln67Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.62A>T
  hgvsp: ENSP00000476085.2:p.Gln21Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.200A>T
  hgvsp: ENSP00000476292.1:p.Gln67Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.200A>T
  hgvsp: ENSP00000470780.1:p.Gln67Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln67Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-18378152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378152
    reference: chr 19
allele count: 4
allele frequency: 3.31619963521804e-5
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.60G>A
  hgvsp: ENST00000593659.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.60G>A
  hgvsp: ENST00000600359.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.60G>A
  hgvsp: ENST00000595654.2:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.198G>A
  hgvsp: ENST00000392413.4:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.198G>A
  hgvsp: ENST00000608950.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.198G>A
  hgvsp: ENST00000600328.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21236
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Pro66Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-18378153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378153
    reference: chr 19
allele count: 29
allele frequency: 2.404882741234617e-4
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.197C>T
  hgvsp: ENSP00000376213.2:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.59C>T
  hgvsp: ENSP00000475861.1:p.Pro20Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.59C>T
  hgvsp: ENSP00000472912.1:p.Pro20Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.59C>T
  hgvsp: ENSP00000476085.2:p.Pro20Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.197C>T
  hgvsp: ENSP00000470780.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.197C>T
  hgvsp: ENSP00000476292.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro66Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18378153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378153
    reference: chr 19
allele count: 2
allele frequency: 1.658539821541115e-5
allele num: 120588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.197C>G
  hgvsp: ENSP00000476292.1:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.59C>G
  hgvsp: ENSP00000472912.1:p.Pro20Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.197C>G
  hgvsp: ENSP00000470780.1:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.197C>G
  hgvsp: ENSP00000376213.2:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.59C>G
  hgvsp: ENSP00000476085.2:p.Pro20Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.59C>G
  hgvsp: ENSP00000475861.1:p.Pro20Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21252
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro66Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-18378160-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378160
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378160
    reference: chr 19
allele count: 3
allele frequency: 2.493060980271577e-5
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.190C>G
  hgvsp: ENSP00000376213.2:p.His64Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.190C>G
  hgvsp: ENSP00000470780.1:p.His64Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.52C>G
  hgvsp: ENSP00000476085.2:p.His18Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.52C>G
  hgvsp: ENSP00000475861.1:p.His18Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.52C>G
  hgvsp: ENSP00000472912.1:p.His18Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.190C>G
  hgvsp: ENSP00000476292.1:p.His64Asp
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His64Asp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

19-18378163-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378163
    reference: chr 19
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.187G>C
  hgvsp: ENSP00000376213.2:p.Glu63Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.49G>C
  hgvsp: ENSP00000475861.1:p.Glu17Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.49G>C
  hgvsp: ENSP00000476085.2:p.Glu17Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.187G>C
  hgvsp: ENSP00000476292.1:p.Glu63Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.49G>C
  hgvsp: ENSP00000472912.1:p.Glu17Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.187G>C
  hgvsp: ENSP00000470780.1:p.Glu63Gln
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu63Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-18378163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378163
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378163
    reference: chr 19
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.187G>A
  hgvsp: ENSP00000470780.1:p.Glu63Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.49G>A
  hgvsp: ENSP00000472912.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.187G>A
  hgvsp: ENSP00000476292.1:p.Glu63Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.49G>A
  hgvsp: ENSP00000476085.2:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.187G>A
  hgvsp: ENSP00000376213.2:p.Glu63Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.49G>A
  hgvsp: ENSP00000475861.1:p.Glu17Lys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu63Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-18378173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378173
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378173
    reference: chr 19
allele count: 1
allele frequency: 8.372684952610603e-6
allele num: 119436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.39C>T
  hgvsp: ENST00000593659.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.39C>T
  hgvsp: ENST00000600359.3:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.177C>T
  hgvsp: ENST00000392413.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.177C>T
  hgvsp: ENST00000608950.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.177C>T
  hgvsp: ENST00000600328.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.39C>T
  hgvsp: ENST00000595654.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu59Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

19-18378174-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378174
    reference: chr 19
allele count: 9
allele frequency: 7.541604518259063e-5
allele num: 119338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.38T>A
  hgvsp: ENSP00000472912.1:p.Leu13His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.38T>A
  hgvsp: ENSP00000475861.1:p.Leu13His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.176T>A
  hgvsp: ENSP00000476292.1:p.Leu59His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.176T>A
  hgvsp: ENSP00000470780.1:p.Leu59His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.38T>A
  hgvsp: ENSP00000476085.2:p.Leu13His
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.176T>A
  hgvsp: ENSP00000376213.2:p.Leu59His
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21265
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu59His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-18378181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378181
    reference: chr 19
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.31G>A
  hgvsp: ENSP00000472912.1:p.Glu11Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.169G>A
  hgvsp: ENSP00000376213.2:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.31G>A
  hgvsp: ENSP00000476085.2:p.Glu11Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.31G>A
  hgvsp: ENSP00000475861.1:p.Glu11Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.169G>A
  hgvsp: ENSP00000476292.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.169G>A
  hgvsp: ENSP00000470780.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu57Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-18378182-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378182
    reference: chr 19
allele count: 1
allele frequency: 8.418925745074929e-6
allele num: 118780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.30C>G
  hgvsp: ENSP00000472912.1:p.His10Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.30C>G
  hgvsp: ENSP00000476085.2:p.His10Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.168C>G
  hgvsp: ENSP00000470780.1:p.His56Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.30C>G
  hgvsp: ENSP00000475861.1:p.His10Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.168C>G
  hgvsp: ENSP00000476292.1:p.His56Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.168C>G
  hgvsp: ENSP00000376213.2:p.His56Gln
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His56Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

19-18378186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378186
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378186
    reference: chr 19
allele count: 1
allele frequency: 8.44694474008751e-6
allele num: 118386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.26A>G
  hgvsp: ENSP00000476085.2:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.26A>G
  hgvsp: ENSP00000475861.1:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.164A>G
  hgvsp: ENSP00000470780.1:p.Gln55Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.164A>G
  hgvsp: ENSP00000376213.2:p.Gln55Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.26A>G
  hgvsp: ENSP00000472912.1:p.Gln9Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.164A>G
  hgvsp: ENSP00000476292.1:p.Gln55Arg
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln55Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-18378189-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378189
    reference: chr 19
allele count: 1
allele frequency: 8.481332586976066e-6
allele num: 117906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.161C>G
  hgvsp: ENSP00000476292.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.161C>G
  hgvsp: ENSP00000376213.2:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.23C>G
  hgvsp: ENSP00000472912.1:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.23C>G
  hgvsp: ENSP00000475861.1:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.161C>G
  hgvsp: ENSP00000470780.1:p.Pro54Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.23C>G
  hgvsp: ENSP00000476085.2:p.Pro8Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.23C>G
  hgvsp: ENST00000599528.1:c.23C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro54Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18378196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378196
    reference: chr 19
allele count: 2
allele frequency: 1.702243557008137e-5
allele num: 117492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.16C>T
  hgvsp: ENSP00000472912.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.154C>T
  hgvsp: ENSP00000476292.1:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.154C>T
  hgvsp: ENSP00000470780.1:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.16C>T
  hgvsp: ENSP00000475649.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.154C>T
  hgvsp: ENSP00000376213.2:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.16C>T
  hgvsp: ENSP00000475861.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.16C>T
  hgvsp: ENSP00000476085.2:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro52Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-18378200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378200
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378200
    reference: chr 19
allele count: 5
allele frequency: 4.272335771412947e-5
allele num: 117032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.12G>A
  hgvsp: ENST00000593659.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.12G>A
  hgvsp: ENST00000600359.3:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.150G>A
  hgvsp: ENST00000392413.4:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.12G>A
  hgvsp: ENST00000595654.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.150G>A
  hgvsp: ENST00000608950.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.12G>A
  hgvsp: ENST00000599528.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.150G>A
  hgvsp: ENST00000600328.3:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala50Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-18378201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378201
    reference: chr 19
allele count: 66
allele frequency: 5.643823433838998e-4
allele num: 116942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.149C>T
  hgvsp: ENSP00000476292.1:p.Ala50Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.11C>T
  hgvsp: ENSP00000476085.2:p.Ala4Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.11C>T
  hgvsp: ENSP00000475861.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.11C>T
  hgvsp: ENSP00000472912.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.11C>T
  hgvsp: ENSP00000475649.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.149C>T
  hgvsp: ENSP00000376213.2:p.Ala50Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.149C>T
  hgvsp: ENSP00000470780.1:p.Ala50Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala50Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-18378203-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378203
    reference: chr 19
allele count: 3
allele frequency: 2.569549129779361e-5
allele num: 116752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.147A>C
  hgvsp: ENSP00000470780.1:p.Lys49Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.9A>C
  hgvsp: ENSP00000475861.1:p.Lys3Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.147A>C
  hgvsp: ENSP00000476292.1:p.Lys49Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.9A>C
  hgvsp: ENSP00000476085.2:p.Lys3Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.9A>C
  hgvsp: ENSP00000472912.1:p.Lys3Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.9A>C
  hgvsp: ENSP00000475649.1:p.Lys3Asn
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.147A>C
  hgvsp: ENSP00000376213.2:p.Lys49Asn
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys49Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

19-18378210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378210
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378210
    reference: chr 19
allele count: 1
allele frequency: 8.61000137760022e-6
allele num: 116144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.2T>C
  hgvsp: ENSP00000475649.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.140T>C
  hgvsp: ENSP00000476292.1:p.Met47Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.2T>C
  hgvsp: ENSP00000475861.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.2T>C
  hgvsp: ENSP00000472912.1:p.Met1?
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.140T>C
  hgvsp: ENSP00000376213.2:p.Met47Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.140T>C
  hgvsp: ENSP00000470780.1:p.Met47Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.2T>C
  hgvsp: ENSP00000476085.2:p.Met1?
  variant of: http://identifiers.org/hgnc/29350
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-18378215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378215
    reference: chr 19
allele count: 2
allele frequency: 1.730732619117673e-5
allele num: 115558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-4C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.135C>T
  hgvsp: ENST00000392413.4:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.135C>T
  hgvsp: ENST00000608950.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-4C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.135C>T
  hgvsp: ENST00000600328.3:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp45Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-18378218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378218
    reference: chr 19
allele count: 1
allele frequency: 8.669718407546123e-6
allele num: 115344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.132G>A
  hgvsp: ENST00000608950.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-7G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.132G>A
  hgvsp: ENST00000600328.3:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-7G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.132G>A
  hgvsp: ENST00000392413.4:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu44Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-18378219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378219
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378219
    reference: chr 19
allele count: 57942
allele frequency: 5.020361481276102e-1
allele num: 115414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.131T>C
  hgvsp: ENSP00000476292.1:p.Leu44Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.131T>C
  hgvsp: ENSP00000470780.1:p.Leu44Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.131T>C
  hgvsp: ENSP00000376213.2:p.Leu44Pro
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 2.75e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.25e1
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 421
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.25e1
  variant carriers: 1388
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 7.5e0
  variant carriers: 1117
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 594
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 2.25e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.25e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 35640
  bin: 9.75e1
  variant carriers: 35586
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 293
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.25e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 6.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.75e1
  variant carriers: 107
hgvs: p.Leu44Pro
num of homozygotes: 14955
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-18378220-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378220
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378220
    reference: chr 19
allele count: 1
allele frequency: 8.817564588660612e-6
allele num: 113410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-9C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.130C>T
  hgvsp: ENST00000600328.3:c.130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.130C>T
  hgvsp: ENST00000608950.1:c.130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.130C>T
  hgvsp: ENST00000392413.4:c.130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14424
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu44Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

19-18378230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378230
    reference: chr 19
allele count: 1
allele frequency: 8.929847121017289e-6
allele num: 111984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.120C>T
  hgvsp: ENST00000392413.4:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-19C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.120C>T
  hgvsp: ENST00000600328.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.120C>T
  hgvsp: ENST00000608950.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-19C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His40His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-18378230-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378230
    reference: chr 19
allele count: 16
allele frequency: 1.428775539362766e-4
allele num: 111984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-19C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-19C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.120C>G
  hgvsp: ENSP00000476292.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-19C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.120C>G
  hgvsp: ENSP00000470780.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.120C>G
  hgvsp: ENSP00000376213.2:p.His40Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-19C>G
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23567
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14425
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His40Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-18378230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378230
    reference: chr 19
allele count: 1
allele frequency: 8.929847121017289e-6
allele num: 111984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.120C>A
  hgvsp: ENSP00000376213.2:p.His40Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.120C>A
  hgvsp: ENSP00000470780.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-19C>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-19C>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.120C>A
  hgvsp: ENSP00000476292.1:p.His40Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-19C>A
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His40Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

19-18378231-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378231
    reference: chr 19
allele count: 1
allele frequency: 8.931761343336905e-6
allele num: 111960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.119A>T
  hgvsp: ENSP00000470780.1:p.His40Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-20A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-20A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.119A>T
  hgvsp: ENSP00000476292.1:p.His40Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.119A>T
  hgvsp: ENSP00000376213.2:p.His40Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-20A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-20A>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His40Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

19-18378235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378235
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378235
    reference: chr 19
allele count: 19
allele frequency: 1.704922740080042e-4
allele num: 111442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.115G>A
  hgvsp: ENSP00000470780.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.115G>A
  hgvsp: ENSP00000476292.1:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.115G>A
  hgvsp: ENSP00000376213.2:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-24G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23564
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala39Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-18378236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378236
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378236
    reference: chr 19
allele count: 26
allele frequency: 2.336658578233127e-4
allele num: 111270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.114C>T
  hgvsp: ENST00000600328.3:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-25C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.114C>T
  hgvsp: ENST00000392413.4:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.114C>T
  hgvsp: ENST00000608950.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-25C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-25C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro38Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-18378239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378239
    reference: chr 19
allele count: 1
allele frequency: 8.990865280874631e-6
allele num: 111224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.111C>T
  hgvsp: ENST00000392413.4:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.111C>T
  hgvsp: ENST00000600328.3:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-28C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.111C>T
  hgvsp: ENST00000608950.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala37Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

19-18378240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378240
    reference: chr 19
allele count: 4
allele frequency: 3.602759713940879e-5
allele num: 111026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.110C>T
  hgvsp: ENSP00000470780.1:p.Ala37Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-29C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-29C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.110C>T
  hgvsp: ENSP00000376213.2:p.Ala37Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-29C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.110C>T
  hgvsp: ENSP00000476292.1:p.Ala37Val
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala37Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-18378240-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378240
    reference: chr 19
allele count: 1
allele frequency: 9.006899284852197e-6
allele num: 111026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.110C>G
  hgvsp: ENSP00000476292.1:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.110C>G
  hgvsp: ENSP00000376213.2:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.110C>G
  hgvsp: ENSP00000470780.1:p.Ala37Gly
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-29C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-29C>G
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23544
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala37Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18378241-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378241
    reference: chr 19
allele count: 1
allele frequency: 9.00835975785529e-6
allele num: 111008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.109G>T
  hgvsp: ENSP00000376213.2:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-30G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.109G>T
  hgvsp: ENSP00000476292.1:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-30G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-30G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.109G>T
  hgvsp: ENSP00000470780.1:p.Ala37Ser
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23544
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala37Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-18378244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378244
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378244
    reference: chr 19
allele count: 1
allele frequency: 9.014043880365609e-6
allele num: 110938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.106C>T
  hgvsp: ENSP00000470780.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.106C>T
  hgvsp: ENSP00000476292.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-33C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.106C>T
  hgvsp: ENSP00000376213.2:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro36Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-18378247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378247
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378247
    reference: chr 19
allele count: 41
allele frequency: 3.701630523103591e-4
allele num: 110762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-36C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.103C>T
  hgvsp: ENSP00000376213.2:p.Pro35Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.103C>T
  hgvsp: ENSP00000476292.1:p.Pro35Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.103C>T
  hgvsp: ENSP00000470780.1:p.Pro35Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro35Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

19-18378253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378253
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378253
    reference: chr 19
allele count: 1
allele frequency: 9.046662686135085e-6
allele num: 110538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.97G>C
  hgvsp: ENSP00000476292.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.97G>C
  hgvsp: ENSP00000470780.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-42G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.97G>C
  hgvsp: ENSP00000376213.2:p.Val33Leu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-42G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val33Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-18378254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378254
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378254
    reference: chr 19
allele count: 2
allele frequency: 1.809856478381264e-5
allele num: 110506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.96G>A
  hgvsp: ENST00000608950.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-43G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-43G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.96G>A
  hgvsp: ENST00000600328.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.96G>A
  hgvsp: ENST00000392413.4:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23521
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala32Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-18378255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378255
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378255
    reference: chr 19
allele count: 14
allele frequency: 1.267404175191469e-4
allele num: 110462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.95C>T
  hgvsp: ENSP00000376213.2:p.Ala32Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.95C>T
  hgvsp: ENSP00000476292.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.95C>T
  hgvsp: ENSP00000470780.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-44C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-44C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14422
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala32Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-18378256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378256
    reference: chr 19
allele count: 1
allele frequency: 9.053214796574263e-6
allele num: 110458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.94G>A
  hgvsp: ENSP00000376213.2:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.94G>A
  hgvsp: ENSP00000476292.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.94G>A
  hgvsp: ENSP00000470780.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-45G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-45G>A
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala32Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-18378266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378266
    reference: chr 19
allele count: 1
allele frequency: 9.070130247070348e-6
allele num: 110252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.84C>T
  hgvsp: ENST00000608950.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.84C>T
  hgvsp: ENST00000600328.3:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-55C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-55C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.84C>T
  hgvsp: ENST00000392413.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-55C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-55C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val28Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18378271-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378271
    reference: chr 19
allele count: 1
allele frequency: 9.081167474890572e-6
allele num: 110118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-60G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.79G>T
  hgvsp: ENSP00000376213.2:p.Val27Phe
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.79G>T
  hgvsp: ENSP00000470780.1:p.Val27Phe
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-60G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-60G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-60G>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.79G>T
  hgvsp: ENSP00000476292.1:p.Val27Phe
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val27Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-18378276-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378276
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378276
    reference: chr 19
allele count: 4
allele frequency: 3.6360330879011e-5
allele num: 110010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.74A>C
  hgvsp: ENSP00000376213.2:p.Glu25Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.74A>C
  hgvsp: ENSP00000470780.1:p.Glu25Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-65A>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-65A>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-65A>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.74A>C
  hgvsp: ENSP00000476292.1:p.Glu25Ala
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-65A>C
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu25Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

19-18378277-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378277
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378277
    reference: chr 19
allele count: 1
allele frequency: 9.090413250186354e-6
allele num: 110006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.73G>C
  hgvsp: ENSP00000376213.2:p.Glu25Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-66G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-66G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.73G>C
  hgvsp: ENSP00000476292.1:p.Glu25Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.73G>C
  hgvsp: ENSP00000470780.1:p.Glu25Gln
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-66G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-66G>C
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14223
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu25Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

19-18378277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378277
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378277
    reference: chr 19
allele count: 3
allele frequency: 2.727123975055906e-5
allele num: 110006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.73G>A
  hgvsp: ENSP00000470780.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-66G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-66G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.73G>A
  hgvsp: ENSP00000376213.2:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.73G>A
  hgvsp: ENSP00000476292.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-66G>A
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu25Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-18378278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378278
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378278
    reference: chr 19
allele count: 1
allele frequency: 9.095705008095177e-6
allele num: 109942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-67C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.72C>T
  hgvsp: ENST00000608950.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.72C>T
  hgvsp: ENST00000600328.3:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.72C>T
  hgvsp: ENST00000392413.4:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-67C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-67C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-67C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23500
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His24His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18378280-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378280
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378280
    reference: chr 19
allele count: 1
allele frequency: 9.098187641021908e-6
allele num: 109912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.70C>G
  hgvsp: ENSP00000470780.1:p.His24Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-69C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-69C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-69C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-69C>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.70C>G
  hgvsp: ENSP00000376213.2:p.His24Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.70C>G
  hgvsp: ENSP00000476292.1:p.His24Asp
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His24Asp
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-18378284-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378284
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378284
    reference: chr 19
allele count: 293
allele frequency: 2.668342349234104e-3
allele num: 109806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-73A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-73A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.66A>T
  hgvsp: ENST00000608950.1:c.66A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.66A>T
  hgvsp: ENST00000392413.4:c.66A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-73A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.66A>T
  hgvsp: ENST00000600328.3:c.66A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-73A>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 280
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr22Thr
num of homozygotes: 4
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-18378295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378295
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378295
    reference: chr 19
allele count: 5
allele frequency: 4.575151437512582e-5
allele num: 109286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-84C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.55C>T
  hgvsp: ENSP00000476292.1:p.Arg19Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.55C>T
  hgvsp: ENSP00000470780.1:p.Arg19Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-84C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.55C>T
  hgvsp: ENSP00000376213.2:p.Arg19Cys
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-84C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg19Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-18378296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378296
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378296
    reference: chr 19
allele count: 6
allele frequency: 5.490282200505106e-5
allele num: 109284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-85C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.54C>T
  hgvsp: ENST00000392413.4:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.54C>T
  hgvsp: ENST00000608950.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.54C>T
  hgvsp: ENST00000600328.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-85C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly18Gly
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

19-18378298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378298
    reference: chr 19
allele count: 8
allele frequency: 7.327617791455998e-5
allele num: 109176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-87G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.52G>A
  hgvsp: ENSP00000470780.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-87G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.52G>A
  hgvsp: ENSP00000476292.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.52G>A
  hgvsp: ENSP00000376213.2:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23387
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly18Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-18378299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378299
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378299
    reference: chr 19
allele count: 2
allele frequency: 1.832374390735515e-5
allele num: 109148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-88C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-88C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.51C>T
  hgvsp: ENST00000600328.3:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-88C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-88C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.51C>T
  hgvsp: ENST00000392413.4:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.51C>T
  hgvsp: ENST00000608950.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala17Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

19-18378306-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378306
    reference: chr 19
allele count: 1
allele frequency: 9.193542455779062e-6
allele num: 108772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-95A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-95A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.44A>T
  hgvsp: ENSP00000476292.1:p.Asn15Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.44A>T
  hgvsp: ENSP00000470780.1:p.Asn15Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.44A>T
  hgvsp: ENSP00000376213.2:p.Asn15Ile
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-95A>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-95A>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn15Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

19-18378306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378306
    reference: chr 19
allele count: 1
allele frequency: 9.193542455779062e-6
allele num: 108772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-95A>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-95A>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.44A>G
  hgvsp: ENSP00000476292.1:p.Asn15Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.44A>G
  hgvsp: ENSP00000376213.2:p.Asn15Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.44A>G
  hgvsp: ENSP00000470780.1:p.Asn15Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-95A>G
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-95A>G
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn15Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18378318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378318
    reference: chr 19
allele count: 3
allele frequency: 2.780352177942539e-5
allele num: 107900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-107G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-107G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.32G>A
  hgvsp: ENSP00000476292.1:p.Gly11Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-107G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-107G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.32G>A
  hgvsp: ENSP00000376213.2:p.Gly11Asp
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.32G>A
  hgvsp: ENSP00000470780.1:p.Gly11Asp
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly11Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-18378319-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378319
    reference: chr 19
allele count: 18
allele frequency: 1.668582446512663e-4
allele num: 107876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-108G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.31G>C
  hgvsp: ENSP00000476292.1:p.Gly11Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.31G>C
  hgvsp: ENSP00000376213.2:p.Gly11Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-108G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.31G>C
  hgvsp: ENSP00000470780.1:p.Gly11Arg
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-108G>C
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-108G>C
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly11Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

19-18378319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378319
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378319
    reference: chr 19
allele count: 1
allele frequency: 9.269902480625904e-6
allele num: 107876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-108G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-108G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-108G>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.31G>A
  hgvsp: ENSP00000470780.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.31G>A
  hgvsp: ENSP00000376213.2:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.31G>A
  hgvsp: ENSP00000476292.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-108G>A
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly11Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-18378320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378320
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378320
    reference: chr 19
allele count: 2
allele frequency: 1.85649308456326e-5
allele num: 107730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.30C>T
  hgvsp: ENST00000608950.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-109C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-109C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.30C>T
  hgvsp: ENST00000600328.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-109C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.30C>T
  hgvsp: ENST00000392413.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-109C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser10Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18378321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378321
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378321
    reference: chr 19
allele count: 157
allele frequency: 1.456725059382423e-3
allele num: 107776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.29C>T
  hgvsp: ENSP00000470780.1:p.Ser10Phe
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-110C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.29C>T
  hgvsp: ENSP00000476292.1:p.Ser10Phe
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-110C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-110C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.29C>T
  hgvsp: ENSP00000376213.2:p.Ser10Phe
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-110C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23435
  bin: 9.75e1
  variant carriers: 154
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ser10Phe
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-18378326-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378326
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378326
    reference: chr 19
allele count: 1
allele frequency: 9.321749505947275e-6
allele num: 107276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.24C>A
  hgvsp: ENSP00000376213.2:p.Asp8Glu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-115C>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-115C>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.24C>A
  hgvsp: ENSP00000476292.1:p.Asp8Glu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.24C>A
  hgvsp: ENSP00000470780.1:p.Asp8Glu
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-115C>A
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-115C>A
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp8Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-18378341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378341
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378341
    reference: chr 19
allele count: 5
allele frequency: 4.734041545948607e-5
allele num: 105618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.14-5C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-130C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-121-9C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-130C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.14-5C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.14-5C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-125-5C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
hgvs: c.14-5C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-18378347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18378347
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18378347
    reference: chr 19
allele count: 113
allele frequency: 1.070866738689562e-3
allele num: 105522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476085
  ensembl transcript: ENST00000595654
  gene symbol: KIAA1683
  hgvsc: ENST00000595654.2:c.-121-15C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000376213
  ensembl transcript: ENST00000392413
  gene symbol: KIAA1683
  hgvsc: ENST00000392413.4:c.14-11C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475861
  ensembl transcript: ENST00000593659
  gene symbol: KIAA1683
  hgvsc: ENST00000593659.1:c.-125-11C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000470780
  ensembl transcript: ENST00000600328
  gene symbol: KIAA1683
  hgvsc: ENST00000600328.3:c.14-11C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000476292
  ensembl transcript: ENST00000608950
  gene symbol: KIAA1683
  hgvsc: ENST00000608950.1:c.14-11C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000472912
  ensembl transcript: ENST00000600359
  gene symbol: KIAA1683
  hgvsc: ENST00000600359.3:c.-136C>T
  variant of: http://identifiers.org/hgnc/29350
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130518
  ensembl protein: ENSP00000475649
  ensembl transcript: ENST00000599528
  gene symbol: KIAA1683
  hgvsc: ENST00000599528.1:c.-136C>T
  variant of: http://identifiers.org/hgnc/29350
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

GenotypeQuality
all individuals: 3593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21223
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18156
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513178481165002e-5
allele num: 66472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 2.271513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 66442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.271179e6

QD
type: SiteQuality
SIO_000300: 1.175e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 2.271147e6

QD
type: SiteQuality
SIO_000300: 1.552e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
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: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 2.563e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 1.751e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.27104e6

VQSLOD
type: SiteQuality
SIO_000300: -2.37e0

GenotypeQuality
all individuals: 3049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516031913292187e-5
allele num: 66430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 2.270645e6

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

GenotypeQuality
all individuals: 5538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21229
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 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: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.992e1

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 4.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 2.270596e6

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
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: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 2.270744e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 5552
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.929384526336099e-4
allele num: 10366
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: 16470
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: 66472
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.270744e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 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: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 3.498e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.245e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 2.270342e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

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

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

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 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: 10382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.270896888346553e-4
allele num: 16390
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: 8650
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.584e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 2.270021e6

GenotypeQuality
all individuals: 3598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

DP
type: SiteQuality
SIO_000300: 2.269753e6

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeQuality
all individuals: 18033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 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: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 9.68e0

QD
type: SiteQuality
SIO_000300: 1.206e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 2.269511e6

VQSLOD
type: SiteQuality
SIO_000300: -1.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQ
type: SiteQuality
SIO_000300: 5.84e1

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21233
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5495
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
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: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 1.264e0

DP
type: SiteQuality
SIO_000300: 2.264559e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 3358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01331886940276e-5
allele num: 66372
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

DP
type: SiteQuality
SIO_000300: 2.265389e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 1.794e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeQuality
all individuals: 3033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21252
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5468
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.616636528028933e-4
allele num: 66360
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.241002730206007e-4
allele num: 16116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.266416e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

GenotypeQuality
all individuals: 3033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 5468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 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: 3.013863773357444e-5
allele num: 66360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.401e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.266416e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

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

GenotypeQuality
all individuals: 21253
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 2788
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3607
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variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
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: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525432933083932e-5
allele num: 66292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 2.262238e6

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 5405
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21257
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
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: 10380
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.306760847628658e-5
allele num: 15856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

FS
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.745e1

VQSLOD
type: SiteQuality
SIO_000300: -1.642e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

DP
type: SiteQuality
SIO_000300: 2.259768e6

GenotypeQuality
all individuals: 1100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
all individuals: 3024
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17170
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.306760847628658e-5
allele num: 15856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.745e1

DP
type: SiteQuality
SIO_000300: 2.259768e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.642e-1

FS
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 315
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21260
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variant carriers: 1

GenotypeQuality
all individuals: 1935
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
all individuals: 2789
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
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GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514463122822959e-5
allele num: 66030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 15340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.727e0

DP
type: SiteQuality
SIO_000300: 2.244729e6

QD
type: SiteQuality
SIO_000300: 1.28e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -1.173e0

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
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: 9
allele frequency: 1.040943789035392e-3
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.952e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 2.243238e6

QD
type: SiteQuality
SIO_000300: 1.386e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518695137138171e-5
allele num: 65846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 2.232684e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15278
bin: 6.25e1
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: 0
allele frequency: 0.0e0
allele num: 14868
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 2.605e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e0

VQSLOD
type: SiteQuality
SIO_000300: -6.812e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 2.232289e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.947e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3374
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GenotypeQuality
all individuals: 128
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variant carriers: 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: 1
allele frequency: 1.520820026158104e-5
allele num: 65754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
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: 14592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.224115e6

VQSLOD
type: SiteQuality
SIO_000300: -1.082e0

FS
type: SiteQuality
SIO_000300: 9.923e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.301e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

GenotypeQuality
all individuals: 199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3375
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14248
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: 0
allele frequency: 0.0e0
allele num: 8638
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: 10354
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.601e1

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 1.795e0

DP
type: SiteQuality
SIO_000300: 2.216555e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14009
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051292222256126e-5
allele num: 65546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13938
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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.591e0

QD
type: SiteQuality
SIO_000300: 1.327e1

FS
type: SiteQuality
SIO_000300: 1.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 2.212673e6

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
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: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.335009537020982e-4
allele num: 11534
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.966e0

DP
type: SiteQuality
SIO_000300: 2.211038e6

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 66

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65424
num of homozygotes: 0

East Asian
type: Population
allele count: 60
allele frequency: 6.954102920723227e-3
allele num: 8628
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: 5
allele frequency: 4.335009537020982e-4
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.217144e6

VQSLOD
type: SiteQuality
SIO_000300: 6.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 163
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variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 2.238471869870169e-4
allele num: 13402
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.7557e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.388e0

DP
type: SiteQuality
SIO_000300: 2.212566e6

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.513e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 21320
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533224985434363e-5
allele num: 65222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.061e0

VQSLOD
type: SiteQuality
SIO_000300: -3.069e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.773e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.175e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.954e0

DP
type: SiteQuality
SIO_000300: 2.209783e6

GenotypeQuality
all individuals: 554
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21322
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2421
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.937984496124031e-4
allele num: 10320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 12542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.208256e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.65e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.291e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21324
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2996
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537988311288834e-5
allele num: 65020
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12408
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 3.458e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

DP
type: SiteQuality
SIO_000300: 2.207992e6

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.701e0

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 508
bin: 7.5e0
variant carriers: 29

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 159

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 153

GenotypeQuality
all individuals: 1792
bin: 6.75e1
variant carriers: 56

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 122

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 68

GenotypeQuality
all individuals: 1450
bin: 2.25e1
variant carriers: 186

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 96

GenotypeQuality
all individuals: 43792
bin: 9.75e1
variant carriers: 42219

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 180

European (Non-Finnish)
type: Population
allele count: 29221
allele frequency: 4.489184538806612e-1
allele num: 65092
num of homozygotes: 6503

African
type: Population
allele count: 7345
allele frequency: 7.117248062015504e-1
allele num: 10320
num of homozygotes: 2626

Latino
type: Population
allele count: 7543
allele frequency: 6.548880013891301e-1
allele num: 11518
num of homozygotes: 2484

Other
type: Population
allele count: 410
allele frequency: 4.85781990521327e-1
allele num: 844
num of homozygotes: 103

East Asian
type: Population
allele count: 4816
allele frequency: 5.609131143722339e-1
allele num: 8586
num of homozygotes: 1325

European (Finnish)
type: Population
allele count: 3310
allele frequency: 5.01059642749016e-1
allele num: 6606
num of homozygotes: 849

South Asian
type: Population
allele count: 5297
allele frequency: 4.25530205655527e-1
allele num: 12448
num of homozygotes: 1065

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.59e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 7.58712e6

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

QD
type: SiteQuality
SIO_000300: 1.98e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 2094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23571
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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: 11144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64488
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 3.838e0

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 2.430668e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 338
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variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
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: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

DP
type: SiteQuality
SIO_000300: 2.421137e6

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64156
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: 16
allele frequency: 1.579155151993683e-3
allele num: 10132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 2.421137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

QD
type: SiteQuality
SIO_000300: 1.452e1

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
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: 1.558700667123886e-5
allele num: 64156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

DP
type: SiteQuality
SIO_000300: 2.421137e6

GenotypeQuality
all individuals: 2242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 2616
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2087
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variant carriers: 0

GenotypeQuality
all individuals: 23557
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 1.25e1
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: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 2.418718e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 122
bin: 2.75e1
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GenotypeQuality
all individuals: 3012
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GenotypeQuality
all individuals: 4662
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 2616
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GenotypeQuality
all individuals: 2084
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variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561719140429785e-5
allele num: 64032
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.666666666666667e-3
allele num: 10200
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: 11482
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.206e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 2.417319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 1959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23556
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 217
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.250547114362534e-4
allele num: 63972
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
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: 16
allele frequency: 1.568627450980392e-3
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.413261e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23543
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563379400913014e-5
allele num: 63964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
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: -5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

QD
type: SiteQuality
SIO_000300: 2.77e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.408858e6

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23544
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 3
allele frequency: 3.159224936815501e-4
allele num: 9496
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: 10190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564994209521425e-5
allele num: 63898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.103e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 2.407238e6

GenotypeQuality
all individuals: 234
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.0530749789385e-4
allele num: 9496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
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: 63898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 2.407238e6

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

GenotypeQuality
all individuals: 4656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
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: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.256281407035176e-3
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 2.2914e1

QD
type: SiteQuality
SIO_000300: 2.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 2.406802e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.038e0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23545
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
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: 1
allele frequency: 1.059322033898305e-4
allele num: 9440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

DP
type: SiteQuality
SIO_000300: 2.405643e6

QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23554
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
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: 41
allele frequency: 3.570806479707368e-3
allele num: 11482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

DP
type: SiteQuality
SIO_000300: 2.407513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.161e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 7.5e0
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GenotypeQuality
all individuals: 237
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23524
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
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: -8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.395949e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 205
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
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: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138534931893792e-5
allele num: 63724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.247e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

DP
type: SiteQuality
SIO_000300: 2.395391e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
all individuals: 1624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23525
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 7.875566056310297e-4
allele num: 10158
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.269035532994924e-3
allele num: 788
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: 1.569858712715855e-5
allele num: 63700
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.612785229054172e-4
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.089324618736383e-4
allele num: 9180
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 1.109e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 2.395636e6

GenotypeQuality
all individuals: 2075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23521
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14415
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
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: 1.569612305760477e-5
allele num: 63710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.72e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.51e-1

QD
type: SiteQuality
SIO_000300: 1.876e1

DP
type: SiteQuality
SIO_000300: 2.392574e6

GenotypeQuality
all individuals: 2833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571585730001571e-5
allele num: 63630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.073e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.103e0

DP
type: SiteQuality
SIO_000300: 2.388434e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 23520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14312
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.104240282685512e-4
allele num: 9056
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: 786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.184e0

VQSLOD
type: SiteQuality
SIO_000300: -1.358e-1

DP
type: SiteQuality
SIO_000300: 2.384987e6

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

QD
type: SiteQuality
SIO_000300: 1.617e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeQuality
all individuals: 23515
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.3000063000063e-5
allele num: 63492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
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: 9034
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

FS
type: SiteQuality
SIO_000300: 1.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 2.382243e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.107419712070875e-4
allele num: 9030
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: 63492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

QD
type: SiteQuality
SIO_000300: 1.281e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.381053e6

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23518
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.21483942414175e-4
allele num: 9030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
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: 63492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

DP
type: SiteQuality
SIO_000300: 2.381053e6

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3668
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14134
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2054
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575696457834363e-5
allele num: 63464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.114e0

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 2.58e1

DP
type: SiteQuality
SIO_000300: 2.379602e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.091e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576292559899117e-5
allele num: 63440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.233e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 2.377773e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
all individuals: 13970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23580
bin: 9.75e1
variant carriers: 289

GenotypeQuality
all individuals: 2617
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 283
allele frequency: 2.467306015693112e-2
allele num: 11470
num of homozygotes: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.544529262086514e-3
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.979669124975084e-4
allele num: 10034
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.155470007257581e-5
allele num: 63382
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.39656e6

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23387
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2641
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13557
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.759789299993653e-5
allele num: 63028
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
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allele frequency: 1.112347052280312e-4
allele num: 8990
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
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SIO_000300: 2.332447e6

FS
type: SiteQuality
SIO_000300: 1.241e0

QD
type: SiteQuality
SIO_000300: 1.426e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9914
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Latino
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allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 6.674082313681868e-4
allele num: 8990
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63024
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.634e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 6
allele frequency: 5.231949773282176e-4
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.176519170293193e-5
allele num: 62962
num of homozygotes: 0

East Asian
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -1.95e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.177023764137756e-5
allele num: 62952
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
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SIO_000300: -4.49e-1

ClippingRankSum
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SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

FS
type: SiteQuality
SIO_000300: 1.995e0

DP
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SIO_000300: 2.326761e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5939303133667e-5
allele num: 62738
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8490
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.816e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 9.808e0

DP
type: SiteQuality
SIO_000300: 2.318851e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62738
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9736
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South Asian
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allele num: 8964
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Latino
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allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8490
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.808e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.816e-1

DP
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.979e1

ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748251748251748e-4
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.608751608751609e-5
allele num: 62160
num of homozygotes: 0

East Asian
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Other
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African
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allele num: 9516
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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MQ
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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allele frequency: 4.53857791225416e-4
allele num: 6610
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Other
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European (Non-Finnish)
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allele frequency: 2.413981782484148e-4
allele num: 62138
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62046
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Other
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European (Finnish)
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East Asian
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Latino
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African
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1657
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.298701298701299e-3
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 1.924086059121917e-3
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 76
allele frequency: 8.006742520016857e-3
allele num: 9492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 9.020327953352019e-4
allele num: 62082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.242152466367713e-4
allele num: 8920
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e0

DP
type: SiteQuality
SIO_000300: 2.31114e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23343
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618489625481501e-5
allele num: 61786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.107e1

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 4.085e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 2.29226e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.543e0

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23347
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11852
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.630630630630631e-4
allele num: 8880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 2.272564e6

GenotypeQuality
all individuals: 1631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23359
bin: 9.75e1
variant carriers: 112

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.610966057441253e-3
allele num: 766
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: 6
allele frequency: 5.268703898840885e-4
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 101
allele frequency: 1.153494746459571e-2
allele num: 8756
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 1.127141568981064e-4
allele num: 8872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.937621383192337e-5
allele num: 60758
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0